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[ { "id": "40d63e07-2d58-4051-9921-5b8913a82752", "type": "title", "text": [ "The effect of transforming growth factor beta1 gene polymorphisms in ankylosing spondylitis." ], "offsets": [ [ 0, 94 ] ] }, { "id": "96bcfe01-16bd-4c43-bf22-fb3635f02e3a", "type": "abstract", "text": [ "OBJECTIVES: To determine whether genetic polymorphisms in or near the transforming growth factor beta1 ( TGFB1 ) locus were associated with susceptibility to or severity of ankylosing spondylitis (AS). METHODS: Five intragenic single-nucleotide polymorphisms (SNP) and three microsatellite markers flanking the TGFB1 locus were genotyped. Seven hundred and sixty-two individuals from 184 multiplex families were genotyped for the microsatellite markers and two of the promoter SNPs. One thousand and two individuals from 212 English and 170 Finnish families with AS were genotyped for all five intragenic SNPs. A structured questionnaire was used to assess the age of symptom onset, disease duration and disease severity scores, including the BASDAI (Bath Ankylosing Spondylitis Disease Activity Index) and BASFI (Bath Ankylosing Spondylitis Functional Index). RESULTS: A weak association was noted between the rare TGFB1 +1632 T allele and AS in the Finnish population (P = 0.04) and in the combined data set (P = 0.03). No association was noted between any other SNPs or SNP haplotype and AS, even among those families with positive non-parametric linkage scores. The TGFB1 +1632 polymorphism was also associated with a younger age of symptom onset (English population, allele 2 associated with age of onset greater by 4.2 yr, P = 0.05; combined data set, allele 2 associated with age of onset greater by 3.2 yr, P = 0.02). A haplotype of coding region SNPs ( TGFB1 +869/+915+1632 alleles 2/1/2) was associated with age of symptom onset in both the English parent-case trios and the combined data set (English data set, haplotype 2/1/2 associated with age of onset greater by 4.9 yr, P = 0.03; combined data set, haplotype 2/1/2 associated with greater age of onset by 4.2 yr, P = 0.006). Weak linkage with AS susceptibility was noted and the peak LOD score was 1.3 at distance 2 cM centromeric to the TGFB1 gene. No other linkage or association was found between quantitative traits and the markers. CONCLUSION: This study suggests that the polymorphisms within the TGFB1 gene play at most a small role in AS and that other genes encoded on chromosome 19 are involved in susceptibility to the disease." ], "offsets": [ [ 95, 2314 ] ] } ]

[ { "id": "029fbfd5-d042-48b8-99f9-0f740f4dcb34", "type": "gene", "text": [ "transforming growth factor beta1" ], "offsets": [ [ 15, 47 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7040" } ] }, { "id": "0b615d3a-de4c-4e4d-9843-86f455dc0fb3", "type": "gene", "text": [ "TGFB1" ], "offsets": [ [ 202, 207 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7040" } ] }, { "id": "ea85c34d-9474-40b2-983e-d0b25c031614", "type": "gene", "text": [ "TGFB1" ], "offsets": [ [ 202, 207 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7040" } ] }, { "id": "5cc331a5-399c-4ce7-aad3-27440f6af7b5", "type": "gene", "text": [ "TGFB1" ], "offsets": [ [ 202, 207 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7040" } ] }, { "id": "386f0b86-8664-490b-8dda-22b9ea316b46", "type": "gene", "text": [ "TGFB1" ], "offsets": [ [ 202, 207 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7040" } ] }, { "id": "4bb79446-ca70-43b0-a597-aa676b7f91b9", "type": "gene", "text": [ "TGFB1" ], "offsets": [ [ 202, 207 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7040" } ] }, { "id": "480f3fb7-6a69-4af2-b0ca-d84812742d4f", "type": "gene", "text": [ "TGFB1" ], "offsets": [ [ 202, 207 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7040" } ] }, { "id": "0cf8ea55-2aa5-46b5-98f5-8323965a4c92", "type": "gene", "text": [ "TGFB1" ], "offsets": [ [ 202, 207 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7040" } ] }, { "id": "66836e78-5a4e-47c7-ac55-c9408ace08bc", "type": "variant", "text": [ "+1632 T" ], "offsets": [ [ 1024, 1031 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "1632T" } ] } ]

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[ { "id": "3a051039-7372-4c10-aa92-e84f5a512d87", "type": "title", "text": [ "Uncoupling protein-2 polymorphisms in type 2 diabetes, obesity, and insulin secretion." ], "offsets": [ [ 0, 89 ] ] }, { "id": "31219e4a-e9da-4ae0-b9be-18b6cba3dc3b", "type": "abstract", "text": [ "The onset of type 2 diabetes (T2DM) is preceded by obesity, insulin resistance, and impaired beta-cell function. Uncoupling protein-2 ( UCP2 ) is a widely expressed inner mitochondrial membrane protein. Common polymorphisms of the UCP2 gene have been implicated in diabetes, in obesity, and with changes in UCP2 mRNA levels. We tested the hypothesis that common UCP2 variants influence T2DM susceptibility in four parallel studies of separate populations. We typed the -866 promoter (G/A) variant, a nonsynonymous ( Ala55Val or A55V ) single-nucleotide polymorphism in exon 4, and a 45-nt insertion in the 3'-untranslated (3'UTR) region. Study populations included a case-control population study, a family-based association study, and a metabolic study of individuals who had been characterized for insulin sensitivity and secretion. To evaluate UCP2 mRNA levels, we examined a fourth population of subjects, who had undergone subcutaneous fat biopsy. All three variants showed a trend to an association with T2DM (P = 0.05 to 0.07) in the population but not the family-based association study. The 3' insertion/deletion (3'UTR I/D) variant was associated with body mass index (BMI, P = 0.035) among nondiabetic family members. Haplotype combinations were significantly associated with BMI (P = 0.028), triglyceride levels (P = 0.026), and fasting insulin (P = 0.029); highest values for the three traits were observed in individuals with the heterozygous combination GVI/AVD. In the metabolic study, all three variants were associated with an index of beta-cell compensation for insulin sensitivity (disposition index), particularly in interaction with family membership (P < 0.000001). Individuals homozygous for the -866 A allele had decreased adipose mRNA levels relative to GG homozygous individuals (P = 0.009), but the 3'UTR I/D variant had no impact on mRNA levels. We confirm modest effects of UCP2 variants on BMI and T2DM and show significant effects on insulin secretion in interaction with family-specific factors. However, the associated allele and the effects on gene expression are opposite to those reported previously." ], "offsets": [ [ 90, 2253 ] ] } ]

[ { "id": "92b5dd19-6eb4-4355-b9e5-0e723d3abe29", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 70, 77 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "2b70d1a7-19ec-4065-b038-be2202b155a2", "type": "gene", "text": [ "Uncoupling protein-2" ], "offsets": [ [ 0, 20 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "f7d50822-8121-4100-b8ae-b3870a1aa2f7", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 230, 234 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "5d006091-e660-46ac-9307-2b97112b2c53", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 230, 234 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "85b79b59-6d0c-47c0-8613-11f35c62abb4", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 230, 234 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "c53138ed-e6d8-470d-8528-f09da052acd7", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 230, 234 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "000d3fb8-ff9d-4a80-8355-499af212176c", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 70, 77 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "60d081b1-026d-41c0-a5a6-56ed4b8f3497", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 230, 234 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "5fd75c71-3237-4cfb-94f9-f08af984b022", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 70, 77 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "49ea06eb-e8bc-4706-a1ca-d3aafeddfded", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 70, 77 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "edec5133-6a45-4349-b0b3-c06c1a3b8f73", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 230, 234 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "b7f1d38c-299a-4ad6-a297-522fb0273b8b", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 70, 77 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "5864b2fc-8e6a-4055-a28c-8bdcbb429cfc", "type": "variant", "text": [ "Ala55Val" ], "offsets": [ [ 616, 624 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "660339" } ] }, { "id": "8fc75f0b-5d22-47f7-a486-e1d140d96606", "type": "variant", "text": [ "A55V" ], "offsets": [ [ 630, 634 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "660339" } ] }, { "id": "17b15d3a-c06a-463e-968e-d9f12134202b", "type": "variant", "text": [ "-866 A" ], "offsets": [ [ 1831, 1837 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "-866A" } ] } ]

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[ { "id": "c28127ba-5157-4c5d-a5bc-39df0c3f842e", "type": "title", "text": [ "SLC11A1 (formerly NRAMP1 ) and susceptibility to visceral leishmaniasis in The Sudan." ], "offsets": [ [ 0, 87 ] ] }, { "id": "0c280920-0a13-4ded-b573-e2d86e681fab", "type": "abstract", "text": [ "Genetic susceptibility to visceral leishmaniasis (VL) is indicated by differences in incidence and clinical phenotypes between ethnic groups in Sudan. In mice, innate susceptibility to Leishmania donovani, the etiological agent of VL, is controlled by Slc11a1 (formerly Nramp1). We therefore examined polymorphisms at SLC11A1 in 59 multicase families of VL from the high-incidence Masalit tribe in Sudan. Multipoint nonparametric analysis in ALLEGRO shows a significant linkage across SLC11A1 (Zlr scores 2.38-2.55; 0.008< or =P< or =0.012; information content 0.88). The extended transmission disequilibrium test shows biased transmission of alleles at 5' polymorphisms in the promoter (P=0.0145), exon 3 (P=0.0037) and intron 4 (P=0.0049), and haplotypes formed by them (P=0.0089), but not for 3' polymorphisms at exon 15 or the 3'UTR. Stepwise logistic regression analysis using a case/pseudo-control data set derived from the 59 families was consistent with main effects contributed by the intron 4 469+14G/C polymorphism. Although the two alleles for 469+14G/C lie on haplotypes carrying different alleles for the functional promoter GTn polymorphism, the latter did not itself contribute separate main effects. Sequence analysis of 36 individuals failed to identify new putative functional polymorphisms in the coding region, intron 1, intron/exon boundaries, intron 4/exon 4a, or in the 3'UTR. One novel promoter polymorphism ( -86G/A ) was located within a putative nuclear factor kappa B binding site that could be functional. Further work will determine whether additional polymorphisms occur upstream in the promoter, which could be in linkage disequilibrium with the intron 4 polymorphism. These studies contribute to knowledge of the role of SLC11A1 in infectious disease." ], "offsets": [ [ 88, 1885 ] ] } ]

[ { "id": "ea061e36-d7f1-4285-a3d3-668e18ac8159", "type": "gene", "text": [ "SLC11A1" ], "offsets": [ [ 0, 7 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6556" } ] }, { "id": "c11342dc-323d-466c-b1de-b48feed8ef47", "type": "gene", "text": [ "SLC11A1" ], "offsets": [ [ 0, 7 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6556" } ] }, { "id": "1aeac406-ea3c-417e-809b-dec72eb2e520", "type": "gene", "text": [ "nuclear factor kappa B" ], "offsets": [ [ 1571, 1593 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4790" } ] }, { "id": "30200d74-4b3f-4a74-a968-666be205b537", "type": "gene", "text": [ "SLC11A1" ], "offsets": [ [ 0, 7 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6556" } ] }, { "id": "fbff0b1e-aace-4c7e-99e2-257d5eb8c7ba", "type": "variant", "text": [ "469+14G/C" ], "offsets": [ [ 1096, 1105 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3731865" } ] }, { "id": "d15e5fab-adb1-40c7-a8ed-7e683770a78b", "type": "variant", "text": [ "469+14G/C" ], "offsets": [ [ 1096, 1105 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3731865" } ] }, { "id": "39edd654-dffc-4584-8410-350572b0fc05", "type": "variant", "text": [ "-86G/A" ], "offsets": [ [ 1531, 1537 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G-86A" } ] } ]

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[ { "id": "187a9068-b890-46d2-972f-a29b88bb3356", "type": "title", "text": [ "Association of TNF-beta polymorphism with disease severity among patients infected with hepatitis C virus." ], "offsets": [ [ 0, 108 ] ] }, { "id": "b17a24b6-9d1e-49a7-9391-6a09358ae919", "type": "abstract", "text": [ "The pathogenesis of chronic hepatitis C virus (HCV) infection remains unclear. Tumour necrosis factor alpha ( TNF-alpha ) is alleged to contribute in the pathogenesis of chronic HCV infection. Single nucleotide polymorphism in TNF-alpha and -beta genes could influence the outcome of HCV infection. The aim was to study single nucleotide polymorphism in TNF-alpha promoter region and Nco I polymorphisms in the TNF-beta gene in patients with chronic hepatitis C. Fifty-two patients with histologically proven chronic hepatitis, who had raised ALT levels (>1.5 x ULN) and were HCV RNA positive, were studied. Genotyping of -308 promoter variant of TNF-alpha was performed by PCR with primers that incorporated an Nco I restriction site. For PCR typing of the TNF-beta Nco I restriction fragment length polymorphism, sequence specific primers were used. Polymorphism in the TNF-alpha G/G, G/A and A/A allele was not different between HCV patients and healthy controls. TNF-beta A/A allele was significantly more common (P = 0.02) in patients (28.8%) as compared to controls (12.8%), whereas no significant difference was observed for TNF-beta G/A and G/G alleles [corrected]. Nco I TNF-beta A/A was strongly associated with -308 TNF-alpha G/G (RR of HCV persistence = 4.9), indicating possible linkage between TNF-beta A/A and TNF-alpha G/G allele. Patients with severe hepatic fibrosis more frequently had the TNF-beta A/A allele as compared to patients with mild disease (P = 0.04). Immunogenetic factors, such as single nucleotide polymorphisms in TNF-beta (A/A allele), may affect the natural course of HCV infection, in particular, the disease progression. Larger studies including cytokine expression profiles are needed to fully understand the contribution of the polymorphisms described in the pathogenesis of chronic hepatitis C." ], "offsets": [ [ 109, 1977 ] ] } ]

[ { "id": "3710f0d4-03b7-459d-b3eb-0c14e551f546", "type": "gene", "text": [ "Tumour necrosis factor alpha" ], "offsets": [ [ 189, 217 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "3b794680-4037-4baf-8f6f-db50ba04a681", "type": "gene", "text": [ "TNF-alpha" ], "offsets": [ [ 221, 230 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "196ef7d5-46d5-47a0-9f8d-65bf165cf8f7", "type": "gene", "text": [ "TNF-alpha" ], "offsets": [ [ 221, 230 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "9b76f34d-e874-4fa3-8094-75ce48b45747", "type": "gene", "text": [ "TNF-alpha" ], "offsets": [ [ 221, 230 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "02bb2217-b6bc-422b-8234-eb4e672edf31", "type": "gene", "text": [ "TNF-beta" ], "offsets": [ [ 16, 24 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "ea4e3d90-fc17-4146-b77d-1fd60d3f6140", "type": "gene", "text": [ "TNF-alpha" ], "offsets": [ [ 221, 230 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "67ff0d4d-7557-40e3-8f90-3804fc085789", "type": "gene", "text": [ "TNF-beta" ], "offsets": [ [ 16, 24 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "6cdffdb3-c292-4a1a-9001-9f059458ac31", "type": "gene", "text": [ "TNF-alpha" ], "offsets": [ [ 221, 230 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "f4f4cc02-abf2-4a64-95c3-8e1c2721f08c", "type": "gene", "text": [ "TNF-beta" ], "offsets": [ [ 16, 24 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "a05ff085-977c-4e22-9bd4-71169a5450a4", "type": "gene", "text": [ "TNF-beta" ], "offsets": [ [ 16, 24 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "67c11fc6-4324-4105-8827-6214ba2e016c", "type": "gene", "text": [ "TNF-beta" ], "offsets": [ [ 16, 24 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "96f5d4a8-78df-483a-a15b-a1b56943fb3a", "type": "gene", "text": [ "TNF-beta" ], "offsets": [ [ 16, 24 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "ee53347a-fbd8-4381-8176-a368f1a33896", "type": "gene", "text": [ "TNF-alpha" ], "offsets": [ [ 221, 230 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "7f33d63b-bb0a-4ce1-939d-f6d40476b5ae", "type": "gene", "text": [ "TNF-beta" ], "offsets": [ [ 16, 24 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "5824df54-e822-4bfb-b31f-c3330ddeb28a", "type": "gene", "text": [ "TNF-beta" ], "offsets": [ [ 16, 24 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "e95074d8-b071-4f87-9188-89a426ed2728", "type": "variant", "text": [ "Nco I polymorphisms" ], "offsets": [ [ 500, 519 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "null" } ] }, { "id": "41d2e795-93a4-4f0a-af30-01d4052cd148", "type": "variant", "text": [ "-308 TNF-alpha G/G" ], "offsets": [ [ 1354, 1372 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G-308G" } ] } ]

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[ { "id": "2314077a-5608-42eb-9936-f5790f20b951", "type": "title", "text": [ "An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype." ], "offsets": [ [ 0, 129 ] ] }, { "id": "80eb6127-afaa-4361-acc6-d2d308d21d6e", "type": "abstract", "text": [ "Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth disorder involving the deregulation of a number of genes, including IGF2 and CDKN1C , in the imprinted gene cluster on chromosome 11p15.5. In sporadic BWS cases the majority of patients have epimutations in this region. Loss of imprinting of the IGF2 gene is frequently observed in BWS, as is reduced CDKN1C expression related to loss of maternal allele-specific methylation (LOM) of the differentially methylated region KvDMR1 . The causes of epimutations are unknown, although recently an association with assisted reproductive technologies has been described. To date the only genetic mutations described in BWS are in the CDKN1C gene. In order to screen for other genetic predispositions to BWS, the conserved sequences between human and mouse differentially methylated regions (DMRs) of the IGF2 gene were analyzed for variants. Four single nucleotide polymorphisms (SNPs) were found in DMR0 ( T123C , G358A , T382G and A402G ) which occurred in three out of 16 possible haplotypes: TGTA, CATG and CAGA. DNA samples from a cohort of sporadic BWS patients and healthy controls were genotyped for the DMR0 SNPs. There was a significant increase in the frequency of the CAGA haplotype and a significant decrease in the frequency of the CATG haplotype in the patient cohort compared to controls. These associations were still significant in a BWS subgroup with KvDMR1 LOM, suggesting that the G allele at T382G SNP (CAGA haplotype) is associated with LOM at KvDMR1 . This indicates either a genetic predisposition to LOM or interactions between genotype and epigenotype that impinge on the disease phenotype." ], "offsets": [ [ 130, 1816 ] ] } ]

[ { "id": "bf1b7523-f47f-42d4-a1da-fa441eacfbc2", "type": "gene", "text": [ "IGF2" ], "offsets": [ [ 40, 44 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3481" } ] }, { "id": "1db57a02-b2a4-4925-8a7b-aade22d4dcfb", "type": "gene", "text": [ "CDKN1C" ], "offsets": [ [ 266, 272 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1028" } ] }, { "id": "a5b9c0b6-68d3-4f6d-9474-54d0520f73a7", "type": "gene", "text": [ "IGF2" ], "offsets": [ [ 40, 44 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3481" } ] }, { "id": "b394ca03-7d61-406d-96a1-6c766ebdf86e", "type": "gene", "text": [ "CDKN1C" ], "offsets": [ [ 266, 272 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1028" } ] }, { "id": "e4a39053-56a9-48dd-b1f9-be4ff1a12864", "type": "gene", "text": [ "KvDMR1" ], "offsets": [ [ 615, 621 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "10984" } ] }, { "id": "1c45457a-f5b8-48d1-84fe-7c6529ac631e", "type": "gene", "text": [ "CDKN1C" ], "offsets": [ [ 266, 272 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1028" } ] }, { "id": "00ef3229-855c-4984-9a73-2a1c15956d76", "type": "gene", "text": [ "IGF2" ], "offsets": [ [ 40, 44 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3481" } ] }, { "id": "472be749-fd01-4be8-b27e-fcfe17f39ace", "type": "gene", "text": [ "KvDMR1" ], "offsets": [ [ 615, 621 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "10984" } ] }, { "id": "1cfacc77-1be4-42b1-a7bc-bb8ba95df237", "type": "gene", "text": [ "KvDMR1" ], "offsets": [ [ 615, 621 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "10984" } ] }, { "id": "63af8f7b-b580-4f21-b8ff-f48990b74ddb", "type": "variant", "text": [ "T123C" ], "offsets": [ [ 1097, 1102 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "T123C" } ] }, { "id": "d2119a41-4e54-4d42-ba10-ac81f6fc29fa", "type": "variant", "text": [ "G358A" ], "offsets": [ [ 1106, 1111 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G358A" } ] }, { "id": "bc4ddf30-6fa8-4c3d-9d28-258ac5cbaa65", "type": "variant", "text": [ "T382G" ], "offsets": [ [ 1115, 1120 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "T382G" } ] }, { "id": "d5fa00aa-4014-46a5-a8ed-cc2721ed942e", "type": "variant", "text": [ "A402G" ], "offsets": [ [ 1127, 1132 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "A402G" } ] }, { "id": "f80806e4-ec68-4287-9b58-8a3ef620d554", "type": "variant", "text": [ "T382G" ], "offsets": [ [ 1115, 1120 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "T382G" } ] } ]

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[ { "id": "3cdb32ae-e6fc-455b-bccb-a0186971e3d2", "type": "title", "text": [ "Association of Fcgamma receptor IIb polymorphism with susceptibility to systemic lupus erythematosus in Chinese: a common susceptibility gene in the Asian populations." ], "offsets": [ [ 0, 169 ] ] }, { "id": "e362e571-58c4-4740-b638-8caf2ad1de92", "type": "abstract", "text": [ "The association of Fcgamma receptor (FcgammaR) polymorphisms with systemic lupus erythematosus (SLE) has been demonstrated in various populations; however, the results have been inconsistent. We recently identified a single-nucleotide polymorphism encoding a non-synonymous substitution, Ile232Thr ( I232T ), of FCGR2B and its association with SLE in Japanese and in Thais. Multiple functional FcgammaR genes with polymorphisms ( FCGR2A , FCGR2B , FCGR3A , and FCGR3B ) cluster in 1q23, and some of them are in linkage disequilibrium (LD). To differentiate contributions from multiple-linked loci, comparison of different populations may provide useful information. In this study, we analyzed the above four FCGR polymorphisms of the Chinese patients and controls for the association with SLE. FCGR2A - H131R , FCGR2B - I232T , FCGR3A - F176V , and FCGR3B genotypes were determined in 167 Chinese patients with SLE and 129 healthy controls. Association was examined using case-control analysis. Allele frequencies of FCGR2B - 232T and FCGR3A - 176F were significantly increased in SLE [odds ratio (OR) = 1.67 and OR = 1.41, respectively]. Interestingly, while these alleles had a tendency of positive LD in the controls, FCGR2B - 232T was in positive association with FCGR3A - 176V in SLE, suggesting that these two alleles were associated with SLE in an independent manner. Comparison between SLE with and without nephritis indicated significant association of FCGR2B - 232T with nephritis (OR = 2.65). When the present results were combined with our previous data on the Japanese and the Thais using meta-analytic methods, highly significant and independent association was observed for FCGR2B and FCGR3A genotypes. These results strongly suggested that FCGR2B is a common susceptibility factor to SLE in the Asians." ], "offsets": [ [ 170, 2015 ] ] } ]

[ { "id": "32f10cfe-acad-4ef1-9f84-c95b258c718f", "type": "gene", "text": [ "FCGR2B" ], "offsets": [ [ 484, 490 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2213" } ] }, { "id": "398029e1-89ea-4d3a-aa05-6e097b784388", "type": "gene", "text": [ "FCGR2A" ], "offsets": [ [ 603, 609 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2212" } ] }, { "id": "96d90009-93a0-40fb-ac9f-fda9b766a26b", "type": "gene", "text": [ "FCGR2B" ], "offsets": [ [ 484, 490 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2213" } ] }, { "id": "0a0affe3-7745-4da5-8c1f-5f880e721939", "type": "gene", "text": [ "FCGR3A" ], "offsets": [ [ 623, 629 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2214" } ] }, { "id": "04f71eef-6767-4f4c-942f-cb518ab7faa9", "type": "gene", "text": [ "FCGR3B" ], "offsets": [ [ 637, 643 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2215" } ] }, { "id": "6af27308-d7e1-45c7-8a9c-e4e3dadba7bf", "type": "gene", "text": [ "FCGR2A" ], "offsets": [ [ 603, 609 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2212" } ] }, { "id": "9c6d5fca-8edd-4376-90f6-767764155aba", "type": "gene", "text": [ "FCGR2B" ], "offsets": [ [ 484, 490 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2213" } ] }, { "id": "a6325d15-ed7a-4d8f-a24f-7308177f96e5", "type": "gene", "text": [ "FCGR3A" ], "offsets": [ [ 623, 629 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2214" } ] }, { "id": "70b809c9-77cd-49be-899d-e81401373b25", "type": "gene", "text": [ "FCGR3B" ], "offsets": [ [ 637, 643 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2215" } ] }, { "id": "4c8a7f79-4625-4d0c-b7e2-bf9391610d83", "type": "gene", "text": [ "FCGR2B" ], "offsets": [ [ 484, 490 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2213" } ] }, { "id": "00eb4fda-c820-4c88-b18b-a10c7d5c9b1c", "type": "gene", "text": [ "FCGR3A" ], "offsets": [ [ 623, 629 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2214" } ] }, { "id": "234ba5ac-6d73-430a-90a4-25f9bb59fff1", "type": "gene", "text": [ "FCGR2B" ], "offsets": [ [ 484, 490 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2213" } ] }, { "id": "3346a6fa-feff-4972-bb17-e5af822d8715", "type": "gene", "text": [ "FCGR3A" ], "offsets": [ [ 623, 629 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2214" } ] }, { "id": "b0877eb7-785c-4582-a6e1-702c6726533c", "type": "gene", "text": [ "FCGR2B" ], "offsets": [ [ 484, 490 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2213" } ] }, { "id": "ef745fc1-1fba-4a44-b8a5-fc73354e3010", "type": "gene", "text": [ "FCGR2B" ], "offsets": [ [ 484, 490 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2213" } ] }, { "id": "a6419224-709b-4fcf-bc2e-31c9315bcfeb", "type": "gene", "text": [ "FCGR3A" ], "offsets": [ [ 623, 629 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2214" } ] }, { "id": "6ca6909a-9147-4849-8553-aa3e26082932", "type": "gene", "text": [ "FCGR2B" ], "offsets": [ [ 484, 490 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2213" } ] }, { "id": "1e1bc861-d13c-4e5c-bbd8-08c64d3c9b70", "type": "variant", "text": [ "Ile232Thr" ], "offsets": [ [ 459, 468 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1050501" } ] }, { "id": "e7c51062-2637-4357-a0e4-cb15f25bc632", "type": "variant", "text": [ "I232T" ], "offsets": [ [ 471, 476 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1050501" } ] }, { "id": "606648d1-c25a-4e7c-ad0f-f3930b45fb7c", "type": "variant", "text": [ "H131R" ], "offsets": [ [ 980, 985 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "H131R" } ] }, { "id": "4a89ad85-f5d3-4e2b-9981-e23654ddd082", "type": "variant", "text": [ "I232T" ], "offsets": [ [ 471, 476 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1050501" } ] }, { "id": "b61d7fcb-3f01-4d82-b42e-f98f648e4ce3", "type": "variant", "text": [ "F176V" ], "offsets": [ [ 1016, 1021 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "F176V" } ] }, { "id": "a0c35107-b2c6-49cc-aa6d-861780a7179b", "type": "variant", "text": [ "232T" ], "offsets": [ [ 462, 466 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1050501" } ] }, { "id": "504e810e-f52a-45f1-8c76-df98cdbf49e1", "type": "variant", "text": [ "176F" ], "offsets": [ [ 1228, 1232 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "176F" } ] }, { "id": "3c8dc7e9-1369-4076-beeb-2161f3411357", "type": "variant", "text": [ "232T" ], "offsets": [ [ 462, 466 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1050501" } ] }, { "id": "dab2317a-5ab3-44c4-80cf-aa0f8f307e97", "type": "variant", "text": [ "176V" ], "offsets": [ [ 1017, 1021 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "176V" } ] }, { "id": "6cf2d546-d473-4728-84a4-2606f6f0347a", "type": "variant", "text": [ "232T" ], "offsets": [ [ 462, 466 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1050501" } ] } ]

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[ { "id": "ab030e7f-dd9b-4c5f-b96e-dd62841db9eb", "type": "title", "text": [ "Chemokine gene polymorphisms associate with gender in patients with uveitis." ], "offsets": [ [ 0, 76 ] ] }, { "id": "7f73221f-8077-4845-97e3-24d5c931233a", "type": "abstract", "text": [ "Uveitis is an inflammatory condition of ocular tissue characterized by leukocyte infiltration, tissue damage, and decreased visual acuity. Chemokines have been implicated in the pathogenesis of uveitis. Polymorphisms in the genes encoding chemokines have been described as affecting chemokine production or function. We analyzed the frequency of single-nucleotide polymorphisms (SNPs) in genes encoding CCL2 (-2518 and -2076) and CCL5 (-403 and -28) in patients with Behcet's disease (BD), a systemic form of uveitis, and patients with retinal vasculitis (RV), an organ-specific form of disease. We report that there was no association between any SNP and disease. However, when segregated on the basis of gender the CCR5 -403 AA genotype was only found in male patients with BD. Similarly, CCL2 genotypes 1/2 were predominant in males, while genotype 4 was significantly associated with disease in female patients with BD. Differences in disease symptoms and severity between males and females have been described in BD and gender-specific genetic differences in chemokine gene function may be involved." ], "offsets": [ [ 77, 1189 ] ] } ]

[ { "id": "e8cf7785-9f1f-44c2-ac67-7c28dc272811", "type": "gene", "text": [ "CCL2" ], "offsets": [ [ 481, 485 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6347" } ] }, { "id": "d6e889aa-63c1-45f0-92ca-fb47624bb826", "type": "gene", "text": [ "CCL5" ], "offsets": [ [ 510, 514 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6352" } ] }, { "id": "d83d92bf-35ea-4625-9bd4-7386e89d50e7", "type": "gene", "text": [ "CCL2" ], "offsets": [ [ 481, 485 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6347" } ] }, { "id": "66077cbb-d4ba-436f-8ae3-6534b9cff762", "type": "variant", "text": [ "-403 AA" ], "offsets": [ [ 804, 811 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "A-403A" } ] } ]

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[ { "id": "96a2db98-c2e8-477f-885b-4c0167b4d1a1", "type": "title", "text": [ "Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes." ], "offsets": [ [ 0, 167 ] ] }, { "id": "6da56781-9482-4b85-9489-b4ad49010811", "type": "abstract", "text": [ "Mutations in the CLCN5 gene have been detected in Dent's disease and its phenotypic variants (X-linked recessive nephrolithiasis, X-linked recessive hypophosphatemic rickets, and idiopathic low-molecular-weight proteinuria of Japanese children). Dent's disease is a tubular disorder characterized by low-molecular-weight proteinuria, and nephrolithiasis associated with nephrocalcinosis and hypercalciuria. ClC-5 is the first chloride channel for which a definitive role in the trafficking and acidification-dependent recycling of apical membrane proteins has been established. In the course of CLCN5 SSCP analysis in patients with hypercalciuric nephrolithiasis, we detected a novel mutation at intron 2 of the CLCN5 gene, a T-to-G substitution, located 17 bp upstream of the AG acceptor site CLCN5 gene, a T-to-G substitution, located 17 bp upstream of the AG acceptor site. To determine the effect of IVS2-17 T>G mutation on the correct splicing of intron 2, we studied ClC-5 transcripts in a patient's peripheral blood leukocytes by means of quantitative comparative RT/PCR, and found a new ClC-5 5' UTR isoform characterized by the untranslated exon 1b and by retention of intron 1b. This new isoform--isoform B1--was not correlated with mutation since it was detected also in control leukocytes and in renal tissues of kidney donors, thus confirming its physiological role. By RACE analysis we determined the putative transcriptional start site which is located at intron 1a, 251 nt upstream of the first nucleotide of the untranslated exon 1b. ORF analysis revealed that intron 1b retention in isoform B1 stabilizes the initiation of translation to the AGT at position 297 of the ClC-5 cDNA coding region." ], "offsets": [ [ 168, 1888 ] ] } ]

[ { "id": "e14a1beb-2830-493e-8aa5-f5c054549049", "type": "gene", "text": [ "CLCN5" ], "offsets": [ [ 51, 56 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1184" } ] }, { "id": "9685d880-6b9b-4a51-ad80-ba14d20d6be7", "type": "gene", "text": [ "CLCN5" ], "offsets": [ [ 51, 56 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1184" } ] }, { "id": "2370722e-6a9d-4cdf-8c14-5c558c8b6c9e", "type": "gene", "text": [ "CLCN5" ], "offsets": [ [ 51, 56 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1184" } ] }, { "id": "b627f1a3-1b7b-4eb4-a157-e0641438c496", "type": "variant", "text": [ "mutation at intron 2 of the CLCN5 gene, a T-to-G substitution, located 17 bp upstream of the AG acceptor site" ], "offsets": [ [ 857, 966 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "null" } ] }, { "id": "7053fb89-0970-472d-af77-4ffda6df62b7", "type": "variant", "text": [ "IVS2-17 T>G" ], "offsets": [ [ 1079, 1090 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "TIVS2-17G" } ] } ]

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[ { "id": "07a0d4ae-5a6f-4899-9672-43fa38f05bad", "type": "title", "text": [ "Association of tumor necrosis factor polymorphisms with asthma and serum total IgE ." ], "offsets": [ [ 0, 85 ] ] }, { "id": "81e6a7ca-06e1-4c0a-b247-72e845628d7c", "type": "abstract", "text": [ "Tumor necrosis factors (TNF; TNFA and TNFB ) are major pro-inflammatory cytokines that are thought to be important in the pathogenesis of asthma. However, the functions of genetic polymorphisms in these cytokines have not been thoroughly examined in the context of asthma pathology. In an effort to discover polymorphism(s) in genes whose variant(s) have been implicated in asthma phenotypes, we examined the genetic effects of TNF ( TNFA and TNFB ) polymorphisms on asthma and total serum IgE level. Seven common single-nucleotide polymorphisms (SNP) in TNF genes were genotyped in a Korean asthma cohort (asthmatics n=550, normal controls n=171). Six common haplotypes could be constructed in the TNF gene cluster due to very strong LD between TNFA and TNFB , located 13 kb apart on chromosome 6p21. One SNP ( TNFA -308G>A) showed a significant association with the risk of asthma (P=0.0004). The frequency of TNFA -308A allele-containing genotype in asthmatics (9.8%) was much lower than that in normal controls (22.9%). The protective effects of this polymorphism on asthma were also evident in separated subgroups by atopic status (P=0.05 in non-atopic subjects and P=0.003 in atopic subjects). The most common haplotype of the TNF gene (TNF-ht1[GGTCCGG]) was associated with total serum IgE (immunoglobulin E) levels in asthma patients, especially in non-atopic patients (P=0.004). Genetic variants of TNF might be involved in development of asthma and total serum IgE level in bronchial asthma patients. The results of this study could be helpful to understand the function of important TNF genes in asthma and IgE production." ], "offsets": [ [ 86, 1736 ] ] } ]

[ { "id": "05ece9b8-0adf-4710-b358-257cdc3dfc9d", "type": "gene", "text": [ "TNFA" ], "offsets": [ [ 116, 120 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "a74ae90f-cb87-48e0-9326-3ae2bf8376c1", "type": "gene", "text": [ "TNFB" ], "offsets": [ [ 127, 131 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "e1c16c8a-089b-4272-ae44-eebbc8d77e58", "type": "gene", "text": [ "TNFA" ], "offsets": [ [ 116, 120 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "a4afe27c-4eb8-4527-a340-930cf5ade96a", "type": "gene", "text": [ "TNFB" ], "offsets": [ [ 127, 131 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "c39497fe-1b56-43b5-9417-51863f761abb", "type": "gene", "text": [ "IgE" ], "offsets": [ [ 80, 83 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "No" } ] }, { "id": "0c7dd5dc-40a4-4d37-ab99-94986546c03f", "type": "gene", "text": [ "TNFA" ], "offsets": [ [ 116, 120 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "c37eb549-715e-4da2-b17c-37d56315eeeb", "type": "gene", "text": [ "TNFB" ], "offsets": [ [ 127, 131 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4049" } ] }, { "id": "8dc74eb3-466b-4f9d-83ab-7cdc62b2d628", "type": "gene", "text": [ "TNFA" ], "offsets": [ [ 116, 120 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "692882c3-ae53-4075-bf87-76f7c8d4d750", "type": "gene", "text": [ "TNFA" ], "offsets": [ [ 116, 120 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7124" } ] }, { "id": "acdd4537-6ce0-4a85-8ba2-f1088e493996", "type": "gene", "text": [ "IgE" ], "offsets": [ [ 80, 83 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "No" } ] }, { "id": "5dfc55ac-1f32-4207-8826-8fe3044aa959", "type": "gene", "text": [ "IgE" ], "offsets": [ [ 80, 83 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "No" } ] }, { "id": "0c2ce636-2345-4377-b0e8-a25267d81b0a", "type": "gene", "text": [ "IgE" ], "offsets": [ [ 80, 83 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "No" } ] } ]

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[ { "id": "fd852a0f-0271-4b09-bbd5-68193cfd245a", "type": "title", "text": [ "Association between polymorphism of the dopamine transporter gene and early smoking onset: an interaction risk on nicotine dependence." ], "offsets": [ [ 0, 136 ] ] }, { "id": "2332937c-dbe1-48d9-857c-e51928add904", "type": "abstract", "text": [ "Previous studies suggested that a polymorphism in the dopamine transporter gene (SLC6A3) is associated with nicotine dependence and age of smoking onset, but the conclusion was controversial. To detect the association of a G-->A polymorphism (NCBI dbSNP cluster ID: rs27072 ) in 3'-untranslated region of the SLC6A3 with nicotine dependence and early smoking onset, we recruited 253 sibships including 668 nicotine-dependent siblings from a rural district of China. The sibship disequilibrium tests (SDT) showed that the rs27072-A allele is significantly associated with smoking onset < or =18 years (kappa2=9.78, p=0.003 in severely nicotine-dependent smokers, and kappa2=4.24, p=0.058 in total smokers), but not significantly associated with severe nicotine dependence. Conditional logistic regression showed that the risk of early smoking onset by the rs27072-A allele was almost three times greater in severely nicotine-dependent smokers [Odds ratio (OR)=11.3, 95% confidence interval (CI)=1.5-85.6] than that in total smokers. Linear regression showed that rs27072-A allele also increased the risk of nicotine dependence by early smoking onset compared with homozygous rs27072-G genotype . Although these findings are preliminary and need validation, the results suggest that a polymorphism in the SLC6A3 may play important roles in smoking onset, and there may be an interactive effect between the SLC6A3 and early smoking onset on modulating the susceptibility of nicotine dependence." ], "offsets": [ [ 137, 1638 ] ] } ]

[ { "id": "b63fdbf6-f807-4d99-8fd9-f5d6918869e2", "type": "gene", "text": [ "dopamine transporter gene (SLC6A3)" ], "offsets": [ [ 192, 226 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6531" } ] }, { "id": "714da62b-dcf9-4f77-92f3-912be578dcb3", "type": "variant", "text": [ "rs27072" ], "offsets": [ [ 406, 413 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "27072" } ] }, { "id": "52922527-0540-4c63-92fb-f22b441ec34d", "type": "variant", "text": [ "rs27072-A allele" ], "offsets": [ [ 662, 678 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "27072" } ] }, { "id": "0b24e91a-35bf-42e6-b907-19ea13c40e8d", "type": "variant", "text": [ "rs27072-A allele" ], "offsets": [ [ 662, 678 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "27072" } ] }, { "id": "053541e2-54ca-4c58-98e6-fb7ae40b97e7", "type": "variant", "text": [ "rs27072-A allele" ], "offsets": [ [ 662, 678 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "27072" } ] }, { "id": "453a6505-d1f6-4789-b069-095744e151d3", "type": "variant", "text": [ "rs27072-G genotype" ], "offsets": [ [ 1321, 1339 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "27072" } ] } ]

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[ { "id": "09fd2ddb-dc6e-4d36-a556-29d98df9e758", "type": "title", "text": [ "Genetic variation at the adiponectin locus and risk of type 2 diabetes in women." ], "offsets": [ [ 0, 82 ] ] }, { "id": "2a00d122-8888-46cf-ac9a-fa49e4f10220", "type": "abstract", "text": [ "Previous data suggesting that polymorphisms in the adiponectin gene were associated with insulin resistance or type 2 diabetes have been inconsistent. We assessed the relationship between five common haplotype-tagging single nucleotide polymorphisms (SNPs) in the adiponectin gene ( -11365C>G , -4034A>C , -3964A>G , +45T>G , and +276G>T ), haplotypes defined by these SNPs, and the risk of type 2 diabetes by conducting a nested case-control study of 642 incident cases of type 2 diabetes and 995 matching control subjects in the Nurses' Health Study. Overall, we did not observe significant differences in genotype or allele frequencies for the five SNPs between the case and control subjects. After adjustment for diabetes risk factors, the -4034 C/C genotype was associated with a reduced risk of diabetes (odds ratio [OR] compared with the A/A genotype = 0.70, 95% CI 0.50-0.99, P = 0.04). In subgroup analyses, the +276 genotype was significantly associated with diabetes risk only among subjects with peroxisome proliferator-activated receptor-gamma ( PPAR gamma ) variant 12Ala allele (OR comparing +276 T alleles with the G/G genotype = 1.69, 1.04-2.75, P = 0.035) or among obese subjects (1.46, 1.03-2.08, P = 0.03). These data suggest a potential interaction between the adiponectin genotype and PPAR gamma genotype or obesity, but these analyses should be considered exploratory and require further investigation in larger studies." ], "offsets": [ [ 83, 1546 ] ] } ]

[ { "id": "a419c5ac-86d9-418b-8fe7-c2a57a872977", "type": "gene", "text": [ "adiponectin" ], "offsets": [ [ 26, 37 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "9370" } ] }, { "id": "c3872780-db39-400b-836e-4554f04e7387", "type": "gene", "text": [ "adiponectin" ], "offsets": [ [ 26, 37 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "9370" } ] }, { "id": "f37ce786-84f3-4e2b-90ed-5eac3a366e75", "type": "gene", "text": [ "peroxisome proliferator-activated receptor-gamma" ], "offsets": [ [ 1102, 1150 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5468" } ] }, { "id": "052eb8c2-8094-472e-a065-58b3b67bba5c", "type": "gene", "text": [ "PPAR gamma" ], "offsets": [ [ 1154, 1164 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5468" } ] }, { "id": "360b1d04-4738-4692-9fe8-59a0eb26d28a", "type": "gene", "text": [ "adiponectin" ], "offsets": [ [ 26, 37 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "9370" } ] }, { "id": "cf7d614f-6f54-4512-b51b-c6d8837b42a7", "type": "gene", "text": [ "PPAR gamma" ], "offsets": [ [ 1154, 1164 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5468" } ] }, { "id": "8ef28d03-4847-4ba4-9aea-4378b112aa7b", "type": "variant", "text": [ "-11365C>G" ], "offsets": [ [ 370, 379 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C-11365G" } ] }, { "id": "2de9b7f0-faef-4cc8-b846-b731923a6376", "type": "variant", "text": [ "-4034A>C" ], "offsets": [ [ 383, 391 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "A-4034C" } ] }, { "id": "4cb5d8b6-86bb-45c7-9292-d43d34d96601", "type": "variant", "text": [ "-3964A>G" ], "offsets": [ [ 395, 403 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "A-3964G" } ] }, { "id": "34ba68af-2c4e-4f2d-8434-87290db897c5", "type": "variant", "text": [ "+45T>G" ], "offsets": [ [ 407, 413 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "2241766" } ] }, { "id": "f74c53ff-def3-4392-930c-08f59ba583f7", "type": "variant", "text": [ "+276G>T" ], "offsets": [ [ 421, 428 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G276T" } ] }, { "id": "6ab29530-d680-493d-b25b-72f7caab6318", "type": "variant", "text": [ "-4034 C/C" ], "offsets": [ [ 836, 845 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C-4034C" } ] }, { "id": "7c0b06b0-561f-49d5-ab7f-b459662e42ee", "type": "variant", "text": [ "12Ala" ], "offsets": [ [ 1176, 1181 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1801282" } ] }, { "id": "2866402c-202e-46d1-9798-6aea7f8d5e3f", "type": "variant", "text": [ "+276 T" ], "offsets": [ [ 1205, 1211 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "276T" } ] } ]

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[ { "id": "bd2e2374-17f5-4d81-ad41-605a3bf5b40f", "type": "title", "text": [ "The common -866 G/A polymorphism in the promoter of uncoupling protein 2 is associated with increased carbohydrate and decreased lipid oxidation in juvenile obesity." ], "offsets": [ [ 0, 169 ] ] }, { "id": "d5e2cd2e-3206-4f3d-a024-44f9727ab258", "type": "abstract", "text": [ "Uncoupling protein (UCP) 2 is a member of the mitochondrial transporter superfamily that uncouples proton entry in the mitochondrial matrix from ATP synthesis. Although its physiological role remains to be established, UCP2 is considered a candidate gene for association with energy metabolism and obesity. A common promoter polymorphism, -866 G/A , has been associated with increased UCP2 gene expression and middle-aged adult obesity. In fact, our analysis of 296 juvenile obese and 568 nonobese control subjects revealed no difference in the prevalence of this polymorphism. Insulin and glucose response to oral glucose was comparable across the -866 genotypes. Metabolic studies in 147 of these juvenile obese subjects showed that homozygosity for the UCP2 promoter variant A was associated with important changes in energy metabolism compared with other genotypes, i.e., a 34% increase of carbohydrate oxidation (94 +/- 10 vs. 70 +/- 3 mg.min(-1).m(-2), P = 0.004) and a 23% decrease of lipid oxidation (26 +/- 3 vs. 34 +/- 1 mg.min(-1).m(-2), P = 0.03). Therefore, the juvenile obese subjects who are homozygous for the A variant have an increased ratio (3.6 +/- 1.2) of calories derived from carbohydrates to those from lipids compared with G/A or G/G obese children (1.4 +/- 0.2, P = 0.003), suggesting a role for UCP2 in the partitioning of metabolic fuels." ], "offsets": [ [ 170, 1546 ] ] } ]

[ { "id": "be636ffb-0201-498d-8123-cffbb60b33a2", "type": "gene", "text": [ "Uncoupling protein (UCP) 2" ], "offsets": [ [ 170, 196 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "1f05c52b-325b-4743-864a-40e8ad8e0b8e", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 391, 395 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "02df7df2-012b-4f31-855a-949b98872c1f", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 391, 395 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "3575e95d-efd7-4e84-bc79-56e7cdc35500", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 391, 395 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "47ca26b2-4a59-48d6-b50d-bef399dd18ab", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 391, 395 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "a6fde834-dca4-4de3-926c-0af029390981", "type": "variant", "text": [ "-866 G/A" ], "offsets": [ [ 12, 20 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G-866A" } ] } ]

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[ { "id": "7a73a42d-0089-4440-9a4b-6d088a85e53f", "type": "title", "text": [ "Interleukin 1alpha single-nucleotide polymorphism associated with systemic sclerosis." ], "offsets": [ [ 0, 86 ] ] }, { "id": "03e3cd17-15a1-4d9f-a85e-858dbbcc6392", "type": "abstract", "text": [ "OBJECTIVE: In systemic sclerosis (SSc), constitutive expression of the proinflammatory and fibrogenic cytokine interleukin 1alpha ( IL-1alpha ) by dermal fibroblasts from the affected skin has been observed. We investigated the association of a single-nucleotide polymorphism at position -889 in the IL-1alpha gene in patients with SSc. METHODS: Genotyping of IL-1alpha -889 polymorphism was performed in 46 patients with SSc and in 150 healthy controls by polymerase chain reaction with sequence-specific primers. All subjects were unrelated Slovak Caucasians. RESULTS: In SSc patients, carriers of the IL-1alpha-889 T allele were significantly overrepresented in comparison with controls (63.0% vs 42.0%; p = 0.01, OR 2.3, 95% CI 1.2-4.6). The frequency of the IL-1alpha-889 T allele was increased in SSc patients (38.0%) in comparison with controls (25.7%; p = 0.02). CONCLUSION: The IL-1alpha -889 polymorphism, previously shown to predispose to increased IL-1 protein expression, may be involved in susceptibility to SSc." ], "offsets": [ [ 87, 1121 ] ] } ]

[ { "id": "162ec1ee-2c02-4bcb-b7c8-d74a110ae59d", "type": "gene", "text": [ "IL-1alpha" ], "offsets": [ [ 219, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3552" } ] }, { "id": "2c1250fe-8532-490f-b444-90d9af46546f", "type": "gene", "text": [ "IL-1alpha" ], "offsets": [ [ 219, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3552" } ] }, { "id": "6e756ab9-c442-4b10-ab8c-4bf22f4783e5", "type": "gene", "text": [ "IL-1alpha" ], "offsets": [ [ 219, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3552" } ] }, { "id": "839c3b34-7560-4f93-89d4-1647a389003f", "type": "gene", "text": [ "IL-1alpha" ], "offsets": [ [ 219, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3552" } ] }, { "id": "60235c79-0579-4cd1-8c43-b3332cf9aa05", "type": "variant", "text": [ "IL-1alpha-889 T allele" ], "offsets": [ [ 695, 717 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "null" } ] }, { "id": "53993899-173c-487e-b2ed-85e1b2c699e1", "type": "variant", "text": [ "IL-1alpha-889 T allele" ], "offsets": [ [ 695, 717 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "null" } ] } ]

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[ { "id": "05ebaeb2-d7fa-49e1-b792-d68191691237", "type": "title", "text": [ "Association of gene polymorphisms with coronary artery disease in individuals with or without nonfamilial hypercholesterolemia." ], "offsets": [ [ 0, 127 ] ] }, { "id": "150c9e68-dd3e-4020-9da7-4beeac0d2dd6", "type": "abstract", "text": [ "A substantial proportion of individuals with coronary artery disease (CAD) has concomitant hypercholesterolemia. A large-scale association study was performed to identify separately genes that confer susceptibility to CAD in the absence or presence of nonfamilial hypercholesterolemia. The study population comprised 5248 unrelated Japanese individuals, including 3085 subjects with CAD (2350 men, 735 women) and 2163 controls (1329 men, 834 women). Among all study subjects, 2541 individuals (1688 men, 853 women) had nonfamilial hypercholesterolemia, and 2707 individuals (1991 men, 716 women) did not have this condition. The genotypes for 33 polymorphisms of 27 candidate genes were determined with a fluorescence- or colorimetry-based allele-specific DNA primer-probe assay system. Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hyperuricemia revealed that three polymorphisms [ 994G --> T ( Val279Phe ) in the platelet-activating factor acetylhydrolase gene, 242C --> T ( His72Tyr ) in the NADH/NADPH oxidase p22 phox gene, and 1100C --> T in the apolipoprotein C-III gene] were significantly associated with CAD in men with hypercholesterolemia. Genotyping of these three polymorphisms may prove informative for prediction of the genetic risk for CAD in men with nonfamilial hypercholesterolemia." ], "offsets": [ [ 128, 1545 ] ] } ]

[ { "id": "2b6452b7-1a03-422a-b95c-ceb37f63ec8c", "type": "gene", "text": [ "platelet-activating factor acetylhydrolase" ], "offsets": [ [ 1151, 1193 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7941" } ] }, { "id": "2b6acec9-a49d-4063-9b92-fa004490f800", "type": "gene", "text": [ "NADH/NADPH oxidase p22 phox" ], "offsets": [ [ 1235, 1262 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1535" } ] }, { "id": "e2980509-872d-4fcb-81af-b1438900c77f", "type": "gene", "text": [ "apolipoprotein C-III" ], "offsets": [ [ 1294, 1314 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "345" } ] }, { "id": "fc6a4fda-ff92-41bb-87d9-7266f13c4a16", "type": "variant", "text": [ "994G --> T" ], "offsets": [ [ 1117, 1127 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G994T" } ] }, { "id": "ebd62163-63c7-4f34-a0d5-d3fa2da4a88c", "type": "variant", "text": [ "Val279Phe" ], "offsets": [ [ 1131, 1140 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "V279F" } ] }, { "id": "92b2e09a-5565-41df-83b6-313003607f79", "type": "variant", "text": [ "242C --> T" ], "offsets": [ [ 1202, 1212 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "4673" } ] }, { "id": "a71ab211-4e47-4a25-bb07-3dfec38ee9ae", "type": "variant", "text": [ "His72Tyr" ], "offsets": [ [ 1216, 1224 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "4673" } ] } ]

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[ { "id": "5719c533-8dcb-4f32-aa98-b8e3139997eb", "type": "title", "text": [ "Polymorphisms in the interleukin-20 gene: relationships to plaque-type psoriasis." ], "offsets": [ [ 0, 83 ] ] }, { "id": "89ddb893-cb6a-45dc-8861-ef44755d3bf0", "type": "abstract", "text": [ "We analyzed the frequency of single-nucleotide polymorphisms (SNPs) at positions -1053 ( rs 2981572 ), 1380 ( rs 2981573 ), 1462 ( rs 2232360 ), and 3978 ( rs 1518108 ) of the human interleukin-20 ( IL-20 ) gene by tetraprimer ARMS-PCR method. A significant association between patients with psoriasis and the G allele at position -1053 (P<0.05) was established. The pairwise linkage disequilibrium (LD) matrix showed that the nearly complete LD was present within the polymorphisms at positions -1053, 1380, and 1462 of the IL-20 gene. We found that patients with plaque psoriasis had a higher frequency of the HT3 GAA haplotype (P<0.01, OR 2.341, 95% CI: 1.346-4.074) compared to the control group. Likewise, the HT3 GAA haplotype was associated with an increased risk of early-onset psoriasis (P<0.01, OR 2.305, 95% CI: 1.285-4.132), late onset of disease (P<0.01, OR 2.542, 95% CI: 1.266-5.102), familial psoriasis (P<0.02, OR 2.220, 95% CI: 1.249-3.945), and sporadic disease (P<0.01, OR 2.523, 95% CI: 1.390-4.580). Our data indicate that IL-20 gene polymorphisms should have a role in determining susceptibility to plaque-type psoriasis. The possible role of the studied SNPs in the regulation of the expression of IL-20 is unknown yet and needs further studies." ], "offsets": [ [ 84, 1367 ] ] } ]

[ { "id": "531d9f14-559e-4b62-9356-119cde65b296", "type": "gene", "text": [ "interleukin-20" ], "offsets": [ [ 22, 36 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "50604" } ] }, { "id": "6cb0718a-4d65-43a1-b369-b0df21cf80df", "type": "gene", "text": [ "IL-20" ], "offsets": [ [ 285, 290 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "50604" } ] }, { "id": "42d26fbd-4b0b-4a95-b763-0d73367c4934", "type": "gene", "text": [ "IL-20" ], "offsets": [ [ 285, 290 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "50604" } ] }, { "id": "1ca160ee-6ae5-4696-9a48-92ba204d9122", "type": "gene", "text": [ "HT3" ], "offsets": [ [ 703, 706 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "144125" } ] }, { "id": "06c6eb7e-086b-4cf1-b072-09bee108642f", "type": "gene", "text": [ "HT3" ], "offsets": [ [ 703, 706 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "144125" } ] }, { "id": "faa39339-3be3-4ba1-9543-d43f6048aa1d", "type": "gene", "text": [ "IL-20" ], "offsets": [ [ 285, 290 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "50604" } ] }, { "id": "00d3c497-5bcc-48be-b8f7-c098c399be95", "type": "gene", "text": [ "IL-20" ], "offsets": [ [ 285, 290 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "50604" } ] }, { "id": "2f9bb812-fd3f-42c7-9acb-578e3004e596", "type": "variant", "text": [ "rs 2981572" ], "offsets": [ [ 173, 183 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "2981572" } ] }, { "id": "5f2dfc08-c798-4458-a77d-c941d8bd56ee", "type": "variant", "text": [ "rs 2981573" ], "offsets": [ [ 194, 204 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "2981573" } ] }, { "id": "49f413d5-88a9-4350-b2a9-58229af82258", "type": "variant", "text": [ "rs 2232360" ], "offsets": [ [ 215, 225 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "2232360" } ] }, { "id": "d450daf7-ddda-487b-9ef3-15080c679a96", "type": "variant", "text": [ "rs 1518108" ], "offsets": [ [ 240, 250 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1518108" } ] }, { "id": "83a407f4-e8ee-4daf-bfd1-915b56b81a85", "type": "variant", "text": [ "G allele at position -1053" ], "offsets": [ [ 397, 423 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "2981572" } ] } ]

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[ { "id": "2ed1a920-e155-4415-a398-51997fd31dda", "type": "title", "text": [ "Ghrelin receptor gene : identification of several sequence variants in extremely obese children and adolescents, healthy normal-weight and underweight students, and children with short normal stature." ], "offsets": [ [ 0, 200 ] ] }, { "id": "f770c944-728e-4daf-8861-dd068edaf965", "type": "abstract", "text": [ "GH secretagogue receptor (GHSR, ghrelin receptor) is involved in regulation of body weight and GH secretion. We initially analyzed two single-nucleotide polymorphisms of the GHSR in up to 184 extremely obese children and adolescents and up to 184 healthy underweight students. The frequency of the 171T allele of rs495225 was higher in our obese samples (75.0%) than in the underweight individuals (70.2%; nominal P = 0.14). This trend could not be substantiated in an additional association study in 270 obese and 145 underweight and normal weight individuals and in a transmission disequilibrium test based on 387 obesity trios (transmission rate of 171T , 51.8%; nominal P = 0.53). Additionally, the coding region of GHSR was systematically screened, and seven sequence variants were identified in 93 obese, 96 normal weight, and 94 underweight individuals and 43 children with short normal stature (SNS). Five silent single-nucleotide polymorphisms showed similar genotype frequencies in the different weight groups and SNS children (all nominal P > 0.3). Two novel missense variants were detected only in one obese carrier and one SNS child, respectively. In conclusion, we did not obtain conclusive evidence for an involvement of the ghrelin receptor gene in body weight regulation or SNS in our study groups." ], "offsets": [ [ 201, 1526 ] ] } ]

[ { "id": "28745f89-8c15-41a9-93e0-35f598700452", "type": "gene", "text": [ "GH secretagogue receptor (GHSR, ghrelin receptor)" ], "offsets": [ [ 201, 250 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2693" } ] }, { "id": "2ef8b153-26e5-4c3d-8bcc-9eaf9ae02d2b", "type": "gene", "text": [ "GHSR" ], "offsets": [ [ 227, 231 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2693" } ] }, { "id": "4f2286f6-8c3d-48c7-874e-244be046c92f", "type": "gene", "text": [ "GHSR" ], "offsets": [ [ 227, 231 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2693" } ] }, { "id": "f6e8489f-4484-4e67-818d-9631227b9ea6", "type": "variant", "text": [ "171T" ], "offsets": [ [ 503, 507 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "495225" } ] }, { "id": "9b54c655-0b53-4afa-8cc1-304074353dad", "type": "variant", "text": [ "rs495225" ], "offsets": [ [ 520, 528 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "495225" } ] }, { "id": "ee7993d1-7321-465d-9414-9817e9685141", "type": "variant", "text": [ "171T" ], "offsets": [ [ 503, 507 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "495225" } ] } ]

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[ { "id": "42c05b4c-6e3a-49cc-9c1e-de200d2daed1", "type": "title", "text": [ "Cytotoxic T lymphocyte-associated molecule-4 polymorphism and relapse of Graves' hyperthyroidism after antithyroid withdrawal." ], "offsets": [ [ 0, 127 ] ] }, { "id": "3d218e56-12df-40f8-8d3c-2855ca13d4ff", "type": "abstract", "text": [ "We studied the A/G single nucleotide polymorphism (SNP) at position 49 in exon 1 of the cytotoxic T lymphocyte-associated molecule-4 gene in 148 Chinese Graves' disease (GD) patients and 171 controls. Our primary aim was to test for the association of this SNP with the relapse of the hyperthyroidism after antithyroid withdrawal. Our secondary aim was to investigate the relationship between GD patients and controls according to the SNP genotypes. All GD patients were divided into the following three groups according to the time of relapse after drug discontinuation: group 1, early relapse within 9 months; group 2, relapse between 10 and 36 months; and group 3, relapse 3 or more years after discontinuation of treatment. There was a significant difference of genotype frequencies (P < 0.001) and allele frequencies (P < 0.001) among the three groups of patients. The frequency of the G/G genotype decreased from 79% to 64% and 39% in groups 1, 2, and 3, respectively. Compared with controls, a strong association (P < 0.001) of G allele was found for group 1, and moderate significance (P = 0.04) was found for group 2, but no association (P = 0.33) was found for group 3. At the end of treatment, the percentage of patients with persistent TSH-receptor antibody was statistically different (A/A, 9.0%; A/G, 20.8%; G/G, 45.5%; P = 0.004). Using 3 yr as the cutoff point for multivariate logistic regression analysis, we found that the G/G genotype (adjusted odds ratio, 3.1 compared with A/G plus A/A; 95% confidence interval, 1.3-7.1), larger goiter size at the end of treatment, and positive TSH-receptor antibody at the end of treatment were independent risk factors of recurrence. We conclude that the A/G polymorphism of the cytotoxic T lymphocyte-associated molecule-4 gene affects the progress of GD. The G/G genotype is associated with poor outcome." ], "offsets": [ [ 128, 1998 ] ] } ]

[ { "id": "e4dc7f4f-6db8-4b3e-b2df-5978d447d1a9", "type": "gene", "text": [ "cytotoxic T lymphocyte-associated molecule-4" ], "offsets": [ [ 219, 263 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1493" } ] }, { "id": "ba5bbf44-9023-4e76-829b-9cccd8e6fbf1", "type": "gene", "text": [ "cytotoxic T lymphocyte-associated molecule-4" ], "offsets": [ [ 219, 263 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1493" } ] }, { "id": "56a3e6c2-93f9-4a4e-ae91-0b7b6d543a7c", "type": "variant", "text": [ "A/G single nucleotide polymorphism (SNP) at position 49" ], "offsets": [ [ 144, 199 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "231775" } ] } ]

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[ { "id": "7f8aa479-4638-48cb-b473-c6bdc51aabac", "type": "title", "text": [ "APOA5 gene variants, lipoprotein particle distribution, and progression of coronary heart disease: results from the LOCAT study." ], "offsets": [ [ 0, 129 ] ] }, { "id": "acd21656-6eda-4ca0-8c73-9338f5e1928a", "type": "abstract", "text": [ "Animal and human studies support a role for apolipoprotein A-V (apoA-V) in triglyceride (TG) metabolism. We examined the relationship of APOA5 -1131T>C and S19W with lipid subfractions and progression of atherosclerosis in the Lopid Coronary Angiography Trial. Compared with -1131TT men (n = 242), carriers of the -1131C allele (n = 54) had significantly higher total TG (P = 0.03), reflected in significantly increased VLDL mass [higher VLDL-TG, VLDL-cholesterol, VLDL-protein, and surface lipids (all P < 0.05)]. Because apoB levels were unaffected by genotype, this suggests an increase in VLDL size and not number. Compared with 19SS men (n = 268), 19W carriers (n = 44) had higher intermediate density lipoprotein (IDL)-TG, IDL-cholesterol (P = 0.04), and IDL-surface components [free cholesterol (P = 0.005) and phospholipids (P = 0.017)] but not protein content, suggesting an increase in IDL lipid enrichment resulting in an increase in IDL size. 19W carriers also showed a trend toward increased progression of atherogenesis, as measured by change in average diameter of segments (-0.46 +/- 0.011 mm compared with -0.016 +/- 0.006 mm) in 19SS men (P = 0.08). There was no effect of genotype on the response of these parameters to gemfibrozil treatment. These results shed new light on the role of APOA5 variants in TG metabolism and coronary heart disease risk." ], "offsets": [ [ 130, 1524 ] ] } ]

[ { "id": "a210476d-ced4-4fab-9672-d4b24ced3c2b", "type": "gene", "text": [ "apolipoprotein A-V (apoA-V)" ], "offsets": [ [ 175, 202 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "116519" } ] }, { "id": "45f3b05a-3424-42ec-b739-8f3d68fbb921", "type": "gene", "text": [ "APOA5" ], "offsets": [ [ 0, 5 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "116519" } ] }, { "id": "17028a9f-6a8c-4216-adbb-5d554fdd911e", "type": "gene", "text": [ "apoB" ], "offsets": [ [ 666, 670 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "338" } ] }, { "id": "7f9ecd2e-8a8b-4dfd-83e9-03a578b5b4b6", "type": "gene", "text": [ "APOA5" ], "offsets": [ [ 0, 5 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "116519" } ] }, { "id": "737d17c8-4c65-4d02-ade5-ebaf8af5805c", "type": "variant", "text": [ "-1131T>C" ], "offsets": [ [ 278, 286 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "T-1131C" } ] }, { "id": "76ad8332-6872-48a6-af09-b486e827fd04", "type": "variant", "text": [ "S19W" ], "offsets": [ [ 293, 297 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3135506" } ] }, { "id": "1ec09e72-2972-42ba-bf78-08ac1df18900", "type": "variant", "text": [ "-1131TT" ], "offsets": [ [ 414, 421 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "T-1131T" } ] }, { "id": "0afb498a-eee1-4996-a8d7-46c0d2a1f9f0", "type": "variant", "text": [ "-1131C" ], "offsets": [ [ 455, 461 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "-1131C" } ] }, { "id": "5c3af14c-65c9-439b-8b89-efa2854aaee7", "type": "variant", "text": [ "19SS" ], "offsets": [ [ 778, 782 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3135506" } ] }, { "id": "72541488-40be-4c8e-9a45-ed6a19e55a9e", "type": "variant", "text": [ "19W" ], "offsets": [ [ 294, 297 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3135506" } ] }, { "id": "7da432db-a1df-403a-8335-5133216a7b40", "type": "variant", "text": [ "19W" ], "offsets": [ [ 294, 297 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3135506" } ] }, { "id": "fd50f843-142f-425f-bf64-5e8b73386044", "type": "variant", "text": [ "19SS" ], "offsets": [ [ 778, 782 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3135506" } ] } ]

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[ { "id": "8adbde8d-e5b5-4c58-8905-353deb03df8d", "type": "title", "text": [ "Association of the Pro12Ala and C1431T 1431T variants of PPARG and their haplotypes with susceptibility to Type 2 diabetes." ], "offsets": [ [ 0, 130 ] ] }, { "id": "f8374098-8b9c-4502-85fe-b431315678b7", "type": "abstract", "text": [ "AIMS/HYPOTHESIS: The Pro12Ala polymorphism of peroxisome proliferator-activated receptor (PPAR)gamma has been consistently associated with Type 2 diabetes. The rare Ala12 variant is estimated to reduce the risk of developing Type 2 diabetes by 20 percent. This variant is in linkage disequilibrium with another common variant, T1431 . Both have opposing associations with body weight. We therefore examined the association of specific haplotypes marked by these two variants with susceptibility to Type 2 diabetes. METHODS: We determined the PPARG genotype of a large Scottish cohort of Type 2 diabetic patients ( n=1997) and compared allele frequencies with a cohort of local children ( n=2444) and a middle-aged, population-based cohort from Scotland ( n=1061). RESULTS: Frequency of the Ala12 allele was slightly lower in the Type 2 diabetic cohort than in the children [odds ratio (OR)=0.91, p=0.1]. In contrast, the Ala12 variant was under-represented in the Type 2 diabetic population when compared with similarly aged non-diabetic adults (OR=0.74, p=0.0006). When the Ala12 variant was on a haplotype not bearing the 1431T variant, it conferred greater protection (OR=0.66, p=0.003). However, when it was present in haplotypes containing the 1431T variant (70% of Ala12 carriers), this protection was absent (OR=0.99, p=0.94). CONCLUSIONS/INTERPRETATION: We replicated the finding that the Ala12 variant of PPARgamma affords protection from Type 2 diabetes, and suggest that this protection is modulated by additional common variation at the PPARG locus." ], "offsets": [ [ 131, 1717 ] ] } ]

[ { "id": "fd5912c7-23c8-4538-95b0-ebda91d0c5ef", "type": "gene", "text": [ "peroxisome proliferator-activated receptor (PPAR)gamma" ], "offsets": [ [ 180, 234 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5468" } ] }, { "id": "9b2a873b-47da-4248-aaca-eac2ffa99659", "type": "gene", "text": [ "PPARG" ], "offsets": [ [ 63, 68 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5468" } ] }, { "id": "ae6140a7-b4ba-423c-87d4-6bffedbabc55", "type": "gene", "text": [ "PPARG" ], "offsets": [ [ 63, 68 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5468" } ] }, { "id": "4d4e46af-78b1-4d90-a6c2-39358c4c2e1a", "type": "variant", "text": [ "Pro12Ala" ], "offsets": [ [ 20, 28 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1801282" } ] }, { "id": "91f5b4c5-7ebb-47a9-a91b-d055c66651a5", "type": "variant", "text": [ "Ala12" ], "offsets": [ [ 301, 306 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1801282" } ] }, { "id": "83a65aca-5d4d-4554-8402-26aa72798de2", "type": "variant", "text": [ "T1431" ], "offsets": [ [ 465, 470 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3856806" } ] }, { "id": "ba18adb8-58a9-40a7-91a5-dee64414888a", "type": "variant", "text": [ "Ala12" ], "offsets": [ [ 301, 306 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1801282" } ] }, { "id": "08aa0dd9-ca1c-42ad-aaec-d2f8217723c5", "type": "variant", "text": [ "Ala12" ], "offsets": [ [ 301, 306 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1801282" } ] }, { "id": "73847687-d84a-4a59-a21c-6598214a15fb", "type": "variant", "text": [ "Ala12" ], "offsets": [ [ 301, 306 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1801282" } ] }, { "id": "67d1f9ac-b5da-40c5-ad43-3583172c73eb", "type": "variant", "text": [ "1431T" ], "offsets": [ [ 36, 41 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3856806" } ] }, { "id": "2620a580-49d6-47df-b12f-23f8ad44dbbb", "type": "variant", "text": [ "1431T" ], "offsets": [ [ 36, 41 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "3856806" } ] }, { "id": "3f196b22-74df-4194-a7e1-5e515ca473aa", "type": "variant", "text": [ "Ala12" ], "offsets": [ [ 301, 306 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1801282" } ] }, { "id": "557d6b01-3331-4e5e-acdd-47992c069ceb", "type": "variant", "text": [ "Ala12" ], "offsets": [ [ 301, 306 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1801282" } ] } ]

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[ { "id": "da27afa4-64c7-4d8f-9c0e-15f48773202f", "type": "title", "text": [ "Associations between breast cancer susceptibility gene polymorphisms and clinicopathological features." ], "offsets": [ [ 0, 102 ] ] }, { "id": "1af3e59e-b4fe-4622-a2f4-648a563a27a2", "type": "abstract", "text": [ "PURPOSE: Genetic polymorphisms may affect not only cancer development but also cancer progression, and as a result could influence cancer phenotypes. The aim of this study was to examine the relationship between breast cancer susceptibility gene polymorphisms and clinicopathological features. Experimental Design: We genotyped 664 Korean primary breast cancer patients for 17 single-nucleotide polymorphisms (SNPs) in nine genes, using a high-throughput SNP scoring method. RESULTS: CYP1A1 codon 462 Ile/Val or Val/Val variants and the CYP1B1 codon 432 Leu/Val variant were found more in breast cancer patients </=35 years of age at onset than the common homozygote [odds ratio (OR), 1.6 and 1.7, respectively]. In combination analysis of these two SNPs, the OR was 1.9 when one of them was heterozygous or a rare homozygous form, and increased to 2.3 when both were variants (P = 0.006). Cases with Ile/Val at CYP1A1 codon 462 CYP1A1 codon 462 were 2.6-fold and those with Val/Val were 5.1-fold more likely to have first-degree relatives with breast cancer than those with Ile/Ile (P = 0.002). In the haplotype study of BRCA1 , the 2430C / 2731T / 3667G / 4427C / 4956G homozygote showed less estrogen receptor negativity than the most common diplotype (OR, 0.5; 95% confidence interval, 0.26-0.94). TP53 codon 72 Arg/Pro or Pro/Pro variants were associated with negative axillary lymph node status (OR, 0.7; 95% confidence interval, 0.49-0.94). CONCLUSIONS: These results indicate that polymorphisms of some selected breast cancer susceptibility genes are associated with the clinicopathological phenotypes of breast cancer." ], "offsets": [ [ 103, 1747 ] ] } ]

[ { "id": "c2a3dc1b-ed5c-48f7-a24c-a9e9acd354d5", "type": "gene", "text": [ "CYP1A1" ], "offsets": [ [ 588, 594 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1543" } ] }, { "id": "fd200323-d0b3-46cc-b5ad-8c6cfb9176a1", "type": "gene", "text": [ "CYP1B1" ], "offsets": [ [ 645, 651 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1545" } ] }, { "id": "48ccac7d-8d3b-4c03-9652-0ee8f47fef0e", "type": "gene", "text": [ "CYP1A1" ], "offsets": [ [ 588, 594 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1543" } ] }, { "id": "761068da-3175-47fb-a3eb-e422f6accb58", "type": "gene", "text": [ "BRCA1" ], "offsets": [ [ 1236, 1241 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "672" } ] }, { "id": "87c790be-9268-4346-9984-2f65f7ffa52a", "type": "gene", "text": [ "TP53" ], "offsets": [ [ 1419, 1423 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7157" } ] }, { "id": "3b14af26-bef0-4a79-9e27-fea6e985a037", "type": "variant", "text": [ "462 Ile/Val" ], "offsets": [ [ 603, 614 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1048943" } ] }, { "id": "6457d11e-48f6-4bbd-a941-3aad744db040", "type": "variant", "text": [ "432 Leu/Val " ], "offsets": [ [ 660, 672 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1056836" } ] }, { "id": "b3fc5792-04b8-44a8-92ba-fae3d86cf17a", "type": "variant", "text": [ "Ile/Val at CYP1A1 codon 462" ], "offsets": [ [ 1013, 1040 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1048943" } ] }, { "id": "46e62ba5-6d7a-4187-b680-c27af26d67b5", "type": "variant", "text": [ "2430C" ], "offsets": [ [ 1249, 1254 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "430C" } ] }, { "id": "38850e3e-39d9-481f-88af-105d4937a67a", "type": "variant", "text": [ "2731T" ], "offsets": [ [ 1257, 1262 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "2731T" } ] }, { "id": "ab4a81a2-22fc-44da-a685-835436e8fa90", "type": "variant", "text": [ "3667G" ], "offsets": [ [ 1265, 1270 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "3667G" } ] }, { "id": "f0a8e7e5-941d-4690-94e5-44280c364a8f", "type": "variant", "text": [ "4427C" ], "offsets": [ [ 1273, 1278 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "4427C" } ] }, { "id": "0ab51732-2e72-40c5-98c4-30f4c7ed46a9", "type": "variant", "text": [ "4956G" ], "offsets": [ [ 1281, 1286 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1799967" } ] }, { "id": "cc7ba621-5b71-4160-895f-7b0cc78ab2df", "type": "variant", "text": [ "72 Arg/Pro" ], "offsets": [ [ 1432, 1442 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1042522" } ] } ]

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[ { "id": "fff8f195-db1f-480f-b962-fbc895418580", "type": "title", "text": [ "Both risk alleles for FcgammaRIIA and FcgammaRIIIA are susceptibility factors for SLE: a unifying hypothesis." ], "offsets": [ [ 0, 113 ] ] }, { "id": "2ade9b7f-bc6c-48d3-a367-180b9cf7e8a9", "type": "abstract", "text": [ "The aim of this study was to analyze in families with SLE for the presence of linkage and the structure and transmission of haplotypes containing alleles for the low-affinity Fcgamma receptors. The Fcgamma receptor polymorphisms FcgammaRIIA - 131R/H , FcgammaRIIIA - 176F/V and FcgammaRIIIB- NA1/2 and a polymorphism in the FcgammaRIIB gene were genotyped with RFLP, allele-specific PCR or pyrosequencing. Individual SNPs and haplotypes were tested for linkage in multicase families and for association using contingency tables, transmission disequilibrium test and affected family-based control groups in Swedish and Mexican single-case families. No linkage or association could be detected using the FcgammaR polymorphisms in the multicase families. However, an association was found for both FcgammaRIIA - 131R and IIIA- 176F alleles in the single-case families, but not for IIIB or IIB. Allelic association to SLE was found for a haplotype that included both risk alleles, but not in haplotypes where only one or the other was present. We propose that FcgammaRIIA - 131R and FcgammaRIIIA - 176F are both risk alleles for SLE transmitted primarily, but not exclusively on a single major haplotype that behaves functionally in a situation similar to that of compound heterozygozity." ], "offsets": [ [ 114, 1409 ] ] } ]

[ { "id": "d8f2cceb-b181-4358-9edd-21fae69316d5", "type": "gene", "text": [ "FcgammaRIIA" ], "offsets": [ [ 23, 34 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2212" } ] }, { "id": "a5cf0a95-5ccb-4d2e-942f-20ffbd0e4401", "type": "gene", "text": [ "FcgammaRIIIA" ], "offsets": [ [ 41, 53 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2214" } ] }, { "id": "17d18ed9-170a-42d3-9d0d-ef0ba06b597f", "type": "gene", "text": [ "FcgammaRIIA" ], "offsets": [ [ 23, 34 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2212" } ] }, { "id": "8c111e44-c182-44df-a613-4f00559fd82e", "type": "gene", "text": [ "FcgammaRIIA" ], "offsets": [ [ 23, 34 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2212" } ] }, { "id": "ac290a6c-bcbf-4fee-80af-614ef93cbeba", "type": "gene", "text": [ "FcgammaRIIIA" ], "offsets": [ [ 41, 53 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2214" } ] }, { "id": "9134e287-afb8-4279-9e10-32f8c322494f", "type": "variant", "text": [ "131R/H" ], "offsets": [ [ 358, 364 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "R131H" } ] }, { "id": "cabe6fc6-186b-4d9f-984e-9e54ee1e067d", "type": "variant", "text": [ "176F/V" ], "offsets": [ [ 383, 389 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "F176V" } ] }, { "id": "16f9b2e8-f634-4f97-bf3e-3e97f699a2c3", "type": "variant", "text": [ "NA1/2 " ], "offsets": [ [ 409, 415 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "null" } ] }, { "id": "a7b4148d-60bf-4e47-9cff-b4422c67b99e", "type": "variant", "text": [ "131R" ], "offsets": [ [ 358, 362 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "131R" } ] }, { "id": "73efdf72-a666-45e9-81e7-6a464bf2c8ae", "type": "variant", "text": [ "176F" ], "offsets": [ [ 383, 387 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "176F" } ] }, { "id": "aa8f66cd-e2a9-47d6-813e-a4c09db3dfbb", "type": "variant", "text": [ "131R" ], "offsets": [ [ 358, 362 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "131R" } ] }, { "id": "81060b1a-1270-4fb0-b9ce-7cb0e1f288e5", "type": "variant", "text": [ "176F" ], "offsets": [ [ 383, 387 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "176F" } ] } ]

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[ { "id": "05949769-c3d5-4f53-83c5-5affd2db49bb", "type": "title", "text": [ "Collagen type I alpha2 ( COL1A2 ) is the susceptible gene for intracranial aneurysms." ], "offsets": [ [ 0, 86 ] ] }, { "id": "ede4ef5d-451f-4904-8cb7-e97bf4c80b86", "type": "abstract", "text": [ "BACKGROUND AND PURPOSE: The collagen alpha2(I) gene ( COL1A2 ) on chromosome 7q22.1, a positional and functional candidate for intracranial aneurysm (IA), was extensively screened for susceptibility in Japanese IA patients. METHODS: Twenty-one single nucleotide polymorphisms (SNPs) of COL1A2 were genotyped in genomic DNA from 260 IA patients (including 115 familial cases) (mean age, 59.9 years) and 293 controls (mean age, 61.6 years). Differences in allelic and genotypic frequencies between the patients and controls were evaluated with the chi(2) test. Circular dichroism spectrometry was monitored with collagen-related peptides that mimic triple-helical models of type I collagen with Ala-459 and Pro-459 to estimate the conformation and stability of alterations. RESULTS: Significant genotypic association in the dominant model was observed between an exonic SNP of COL1A2 and familial IA patients (chi(2)=11.08; df=1; P=0.00087; odds ratio=3.19; 95% CI, 2.22 to 6.50). This SNP induces Ala to Pro substitution at amino acid 459 , located on a triple-helical domain. Circular dichroism spectra showed that the Pro-459 peptide had a higher thermal stability than the Ala-459 peptide. CONCLUSIONS: The variant of COL1A2 could be a genetic risk factor for IA patients with family history." ], "offsets": [ [ 87, 1398 ] ] } ]

[ { "id": "985c5793-1540-40c5-828b-a2690688f84b", "type": "gene", "text": [ "collagen alpha2(I) gene" ], "offsets": [ [ 116, 139 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1278" } ] }, { "id": "2889a694-e0ad-4854-8648-07273ccebfec", "type": "gene", "text": [ "COL1A2" ], "offsets": [ [ 26, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1278" } ] }, { "id": "218ba7ce-1237-4fc3-8536-6ca7ca3c200a", "type": "gene", "text": [ "COL1A2" ], "offsets": [ [ 26, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1278" } ] }, { "id": "19f669a5-b2be-4803-880f-aece2bf253f5", "type": "gene", "text": [ "COL1A2" ], "offsets": [ [ 26, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1278" } ] }, { "id": "0ec5364f-83f3-440a-b165-e77693ef4986", "type": "gene", "text": [ "COL1A2" ], "offsets": [ [ 26, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "1278" } ] }, { "id": "c1794ba7-a18f-4749-9d82-d02ce196485e", "type": "variant", "text": [ "Ala-459" ], "offsets": [ [ 785, 792 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "459A" } ] }, { "id": "262880e7-24d4-4223-9a24-7cf5475442b1", "type": "variant", "text": [ "Pro-459" ], "offsets": [ [ 799, 806 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "459P" } ] }, { "id": "6885cbba-ee98-4f7a-8bca-99a84f1e78e5", "type": "variant", "text": [ "Ala to Pro substitution at amino acid 459" ], "offsets": [ [ 1094, 1135 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "A459P" } ] }, { "id": "a39f883c-5127-4e7b-a496-aac55dfe62a7", "type": "variant", "text": [ "Pro-459" ], "offsets": [ [ 799, 806 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "459P" } ] }, { "id": "6aa82973-f4ab-44f8-bd97-55e7a56c2e5c", "type": "variant", "text": [ "Ala-459" ], "offsets": [ [ 785, 792 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "459A" } ] } ]

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[ { "id": "5df219a7-e20c-4f53-9ac7-0080841e5a3e", "type": "title", "text": [ "Relationship between postrenal transplant osteonecrosis of the femoral head and gene polymorphisms related to the coagulation and fibrinolytic systems in Japanese subjects." ], "offsets": [ [ 0, 172 ] ] }, { "id": "2e514b49-6702-49d2-9f76-58995483ae75", "type": "abstract", "text": [ "BACKGROUND: Nontraumatic osteonecrosis of the femoral head (ONFH) is one of the complications that may occur after renal transplantation. We investigated the relationship between the incidence of ONFH and polymorphisms in the genes for plasminogen activator inhibitor (PAI)-1 , which is one of the major regulatory proteins of the fibrinolytic system, and 5,10-methylenetetrahydrofolate reductase ( MTHFR ), which is associated with the plasma levels of homocysteine in Japanese subjects. METHODS: Thirty-one patients with postrenal transplant ONFH and 106 patients without ONFH were selected. Genotypes of PAI-1 4G/5G and MTHFR C677T were determined by direct sequencing of genomic DNA. In addition, plasma PAI-1 antigen (Ag) levels and plasma total homocysteine (tHcy) levels at the steady state were measured. The relationships between the incidence of ONFH and these genotypes, as well as plasma levels of the gene products, were investigated. RESULTS: Plasma PAI-1 Ag levels were the highest in patients with the 4G/4G genotype, and plasma tHcy levels were the highest in patients with TT genotypes of MTHFR C677T . However, the relationship between the incidence of ONFHH and PAI-1 4G/5G or MTHFR C677T was not observed. The relationship between the incidence of ONFH and plasma levels of PAI-1 Ag or tHcy was not observed. CONCLUSIONS: Genotypes of PAI-1 4G/5G and MTHFR C677T or plasma concentrations of PAI-1 Ag and tHcy had no effect on the incidence of ONFH in Japanese subjects, unlike the results of studies performed in white subjects. The effect of genetic background on the pathologic conditions that developed in patients with postrenal transplant ONFH may differ according to race." ], "offsets": [ [ 173, 1910 ] ] } ]

[ { "id": "35310ea0-c58c-480e-ba33-498f95d7ecc4", "type": "gene", "text": [ "plasminogen activator inhibitor (PAI)-1" ], "offsets": [ [ 410, 449 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5054" } ] }, { "id": "1e3f0f2d-dbde-40af-9807-51877de75b41", "type": "gene", "text": [ "5,10-methylenetetrahydrofolate reductase" ], "offsets": [ [ 531, 571 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4524" } ] }, { "id": "da1a87c9-40aa-4404-a47f-0a5b9889c657", "type": "gene", "text": [ "MTHFR" ], "offsets": [ [ 575, 580 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4524" } ] }, { "id": "3fee8bf6-3872-4d4d-a1b3-42b1751bb418", "type": "gene", "text": [ "PAI-1" ], "offsets": [ [ 784, 789 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5054" } ] }, { "id": "697f6168-3742-4c4f-940d-d01e5b12fd9a", "type": "gene", "text": [ "MTHFR" ], "offsets": [ [ 575, 580 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4524" } ] }, { "id": "c711c658-67df-4cd3-944d-2edac3eb9d13", "type": "gene", "text": [ "PAI-1" ], "offsets": [ [ 784, 789 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5054" } ] }, { "id": "5f18a62a-30cd-47f6-9077-0b7fc6a5954a", "type": "gene", "text": [ "PAI-1" ], "offsets": [ [ 784, 789 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5054" } ] }, { "id": "57f88726-de23-47be-badb-9b03757e41ec", "type": "gene", "text": [ "MTHFR" ], "offsets": [ [ 575, 580 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4524" } ] }, { "id": "48da086c-6eb6-4582-921c-8b7f76c761f9", "type": "gene", "text": [ "PAI-1" ], "offsets": [ [ 784, 789 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5054" } ] }, { "id": "9cb9c464-20be-4fc7-8d86-de7bf6780c51", "type": "gene", "text": [ "MTHFR" ], "offsets": [ [ 575, 580 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4524" } ] }, { "id": "8e1bcb8c-7737-4923-a50e-dbadfcbd30ca", "type": "gene", "text": [ "PAI-1" ], "offsets": [ [ 784, 789 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5054" } ] }, { "id": "87ec1487-5c88-46a0-ba7e-e5fceda715c6", "type": "gene", "text": [ "PAI-1" ], "offsets": [ [ 784, 789 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5054" } ] }, { "id": "ec147ead-1b11-48f4-a8f2-b2479ae3a7fc", "type": "gene", "text": [ "MTHFR" ], "offsets": [ [ 575, 580 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4524" } ] }, { "id": "316f3231-2388-46f8-877e-5bcc67f06dc8", "type": "gene", "text": [ "PAI-1" ], "offsets": [ [ 784, 789 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5054" } ] }, { "id": "d9f38159-0fe2-438b-8e2c-14e5120596e1", "type": "variant", "text": [ "4G/5G" ], "offsets": [ [ 792, 797 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "null" } ] }, { "id": "e3257fa7-361a-4c6c-b016-556ea8349cde", "type": "variant", "text": [ "C677T" ], "offsets": [ [ 812, 817 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C677T" } ] }, { "id": "0255381f-0919-4005-ad5b-1d09b60b7368", "type": "variant", "text": [ "C677T" ], "offsets": [ [ 812, 817 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C677T" } ] }, { "id": "c45c4142-227a-461c-b484-9e95742bfe22", "type": "variant", "text": [ "4G/5G" ], "offsets": [ [ 792, 797 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "null" } ] }, { "id": "875321dd-acd4-4d0e-aa6c-a52e15bca9cf", "type": "variant", "text": [ "C677T" ], "offsets": [ [ 812, 817 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C677T" } ] }, { "id": "201aad75-fa1a-4d77-bdd8-1fe24af92112", "type": "variant", "text": [ "4G/5G" ], "offsets": [ [ 792, 797 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "null" } ] }, { "id": "38a6b3e6-235f-40a8-b0e4-de212270a5cc", "type": "variant", "text": [ "C677T" ], "offsets": [ [ 812, 817 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C677T" } ] } ]

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[ { "id": "0eb288ed-031a-4223-bd62-bcfb75d6df76", "type": "title", "text": [ "Uncoupling protein 2 promoter polymorphism -866G/A affects its expression in beta-cells and modulates clinical profiles of Japanese type 2 diabetic patients." ], "offsets": [ [ 0, 160 ] ] }, { "id": "921ebc61-d950-4c08-bb5e-7d0abaa01a79", "type": "abstract", "text": [ "Common uncoupling protein 2 ( UCP2 ) promoter polymorphism -866G/A is reported to be associated with its expression in adipose tissue and the risk of obesity in Caucasians. On the other hand, several studies suggested that UCP2 expression in beta-cells is an important determinant of insulin secretion. In the Japanese population, morbid obesity is very rare, and insulin secretion capacity is relatively low as compared with Caucasians. Because UCP2 would link to insulin secretion and obesity, it might explain this ethnic difference. Here, we report that the UCP2 promoter with the A allele showed higher promoter activity in the INS-1 beta-cell line. The frequency of the A allele is higher in our Japanese study than that in Caucasians. Type 2 diabetic patients with the A allele need insulin therapy earlier and showed higher frequency of insulin treatment. Moreover glucose-induced early insulin secretion is significantly lower in patients with the A allele. However, there was no difference in allele frequency between obese and lean type 2 diabetic patients. In conclusion, UCP2 promoter polymorphism -866G/A does not affect obesity in Japanese type 2 diabetic patients but affects its transcription in beta-cells and modulates glucose-induced insulin secretion and eventually insulin requirement in Japanese type 2 diabetic patients. Higher A allele frequency in the Japanese population might partly explain the ethnic difference of insulin secretion capacity." ], "offsets": [ [ 161, 1662 ] ] } ]

[ { "id": "1ca3c0f7-9474-4939-9cff-d12ffa747eb4", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 191, 195 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "274c2781-40be-4fdd-8ff2-1cbe0154ec35", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 191, 195 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "e0c4037c-ca5a-41d5-a0b7-3d5d1dcc07de", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 450, 457 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "19a42c2a-9eb2-4e39-84dc-095fe5e49b2b", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 450, 457 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "cef8c0f4-48b7-42b0-ae61-4dee1f48ea04", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 191, 195 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "0c1d4586-24aa-4296-8d33-4cec6de67cd7", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 450, 457 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "34b0add5-b6a7-4a9d-90d8-6fd165dc495e", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 191, 195 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "3d3230b8-608e-46b1-9bac-5440e891d87f", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 450, 457 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "e8bc33de-e7e0-41b2-8486-31e9ea46e7b0", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 450, 457 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "6b112fee-58a6-4165-8ac8-40838e81e97b", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 450, 457 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "fcd77405-3120-4333-9b57-4a841f20dae3", "type": "gene", "text": [ "UCP2" ], "offsets": [ [ 191, 195 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7351" } ] }, { "id": "6f4febaf-874a-471c-8480-0b438d58e56e", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 450, 457 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "f2fda696-d5b0-45fe-a9b3-0f7bd598beaa", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 450, 457 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "10a3050b-1274-4424-b5a0-f65aad234a8d", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 450, 457 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "fd11b891-a9a6-4130-85a0-d59714e1aca4", "type": "variant", "text": [ "-866G/A" ], "offsets": [ [ 45, 52 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G-866A" } ] }, { "id": "1bc07e6b-ba5a-4a9f-9d4a-98c04f8e0284", "type": "variant", "text": [ "-866G/A" ], "offsets": [ [ 45, 52 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G-866A" } ] } ]

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[ { "id": "78fc68cc-0306-4985-b865-2e1a9f5e39b2", "type": "title", "text": [ "Association of TAP2 gene polymorphisms in Chinese patients with rheumatoid arthritis." ], "offsets": [ [ 0, 87 ] ] }, { "id": "0369aa6c-b8ac-4e92-bde3-0cbbb9b33511", "type": "abstract", "text": [ "The aim of this study was to investigate the association between the polymorphism of transporters associated with antigen processing ( TAP1 / TAP2 ) genes and rheumatoid arthritis in Chinese patients. A total of 100 RA patients and 99 healthy control subjects were enrolled. Analyses with polymerase chain reaction (PCR) based restrictions were used to identify the polymorphisms of the TAP1 and TAP2 genes, which were mapped on chromosome 6. There was a significant difference in the distribution of the TAP2 gene codon 565 polymorphism frequency between the RA patients and healthy control subjects ( p<0.001). The odds ratio for the risk of the 'A' allele in RA patients was 1.60 (95% CI: 0.82-2.92). No statistical associations in the distribution of the TAP1 gene polymorphism frequency were found between RA patients and controls. There were some physical links found between TAP1 / TAP2 gene polymorphism loci. However, there was no linkage observed from TAP1 / TAP2 gene polymorphisms and HLA-DRB1*04 between RA patients and healthy controls. We concluded that the TAP2 gene codon 565 'A' allele was associated with RA in Chinese patients in Taiwan. Individuals possessing the 'A' allele had a higher incidence of RA. A lack of association of TAP1 gene polymorphisms between RA patients and healthy individuals was noted. The results of this study provide genetic evidence that TAP2 gene codon 565 polymorphism may play a role in RA." ], "offsets": [ [ 88, 1552 ] ] } ]

[ { "id": "5b57b373-082e-433a-bab7-9a0fc5782890", "type": "gene", "text": [ "TAP1" ], "offsets": [ [ 224, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6890" } ] }, { "id": "1479f5b5-51c0-4c12-bc63-c16c0ca02259", "type": "gene", "text": [ "TAP2" ], "offsets": [ [ 16, 20 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6891" } ] }, { "id": "72e92a69-a948-4f00-9be4-a9763a693665", "type": "gene", "text": [ "TAP1" ], "offsets": [ [ 224, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6890" } ] }, { "id": "20bd99aa-653b-4352-b2e8-0aa30f3ac648", "type": "gene", "text": [ "TAP2" ], "offsets": [ [ 16, 20 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6891" } ] }, { "id": "5a5e3342-4af2-408a-b51a-93d1262da0c1", "type": "gene", "text": [ "TAP2" ], "offsets": [ [ 16, 20 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6891" } ] }, { "id": "b2556ef5-a308-4460-abc7-a9b8f6732907", "type": "gene", "text": [ "TAP1" ], "offsets": [ [ 224, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6890" } ] }, { "id": "6f6582db-eae8-4620-ae5b-d8c0e72ff5b8", "type": "gene", "text": [ "TAP1" ], "offsets": [ [ 224, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6890" } ] }, { "id": "20d4499e-0d77-493a-882d-afdb1c19730d", "type": "gene", "text": [ "TAP2" ], "offsets": [ [ 16, 20 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6891" } ] }, { "id": "b138e724-c5b5-410f-b114-ad20400d0ca4", "type": "gene", "text": [ "TAP1" ], "offsets": [ [ 224, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6890" } ] }, { "id": "4966f8ef-441f-4425-ae2c-7e6a8cb590c4", "type": "gene", "text": [ "TAP2" ], "offsets": [ [ 16, 20 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6891" } ] }, { "id": "c494b22d-8241-43db-958a-e193e201b2d4", "type": "gene", "text": [ "TAP2" ], "offsets": [ [ 16, 20 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6891" } ] }, { "id": "bf9a77f0-df58-4a60-8c7b-45b8fb8ad87e", "type": "gene", "text": [ "TAP1" ], "offsets": [ [ 224, 228 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6890" } ] }, { "id": "e0af70a0-b74e-4ac1-ad29-8193cd66019c", "type": "gene", "text": [ "TAP2" ], "offsets": [ [ 16, 20 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "6891" } ] }, { "id": "d247fb00-9bb9-4cc5-a674-0fb443beff10", "type": "variant", "text": [ "HLA-DRB1*04" ], "offsets": [ [ 1099, 1110 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "null" } ] }, { "id": "a925fd78-6622-43e1-ac98-4af6d616511c", "type": "variant", "text": [ "565 'A' " ], "offsets": [ [ 1195, 1203 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "2228396" } ] } ]

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[ { "id": "b51de786-9344-4b07-8ad7-4890e41ff115", "type": "title", "text": [ "MDR1 haplotypes modify BEN disease risk: a study in Bulgarian patients with Balkan endemic nephropathy compared to healthy controls." ], "offsets": [ [ 0, 133 ] ] }, { "id": "c38710f9-6aaf-4d45-9a9e-a59a7b40ce55", "type": "abstract", "text": [ "BACKGROUND: Balkan endemic nephropathy (BEN) is a slow progressive nephropathy with frequent occurrence of uroepithelial tumors in the upper urinary tract. Genetic factors involved in xenobiotic detoxification mechanisms may cause genetic predisposition to BEN and influence the risk for this disease. Polymorphic MDR1 variants with decreased P-glycoprotein (P-gp) activity modulate the risk for renal neoplasm. We have therefore investigated the impact of MDR1 polymorphisms on BEN manifestation. METHODS: The constitutional genotype frequencies of two SNPs ( C3435T and G2677T ) in the MDR1 gene in 112 healthy control subjects were investigated and compared with those of 96 patients with BEN. Identification of the SNPs was done with rapid cycle real-time PCR and melting curve analysis with allele-specific probes. RESULTS: The frequency of mutant alleles was comparable in both groups. Significant differences were revealed when the MDR1 haplotypes were analyzed. Individuals with a predicted haplotype 12 (2677G/3435T) were less frequent in BEN cases (frequency 7.3%) than in controls (16.1%, p = 0.006). We found that carriers of the haplotype 12 had a decreased risk for BEN (OR = 0.411; 0.21-0.78). CONCLUSIONS: The data suggest that haplotype 12 is protective against BEN. There is no clear molecular explanation of the MDR1 haplotype effects on the protein activity, which can explain the modified effect of the haplotype 12 on BEN risk." ], "offsets": [ [ 134, 1597 ] ] } ]

[ { "id": "307f4183-7b82-4d3f-920d-6335ed73ecd5", "type": "gene", "text": [ "MDR1" ], "offsets": [ [ 0, 4 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5243" } ] }, { "id": "b0c1cc2f-bc09-4b0d-b96e-15d9de9ab401", "type": "gene", "text": [ "P-glycoprotein (P-gp)" ], "offsets": [ [ 480, 501 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5243" } ] }, { "id": "2cd7b4b4-a756-4d6d-aff1-b4f5e86c462e", "type": "gene", "text": [ "MDR1" ], "offsets": [ [ 0, 4 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5243" } ] }, { "id": "79833a71-45a3-40a8-9330-c5687cd0df8e", "type": "gene", "text": [ "MDR1" ], "offsets": [ [ 0, 4 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5243" } ] }, { "id": "47d365e3-8e6e-4b86-94c8-c08c98c3439d", "type": "gene", "text": [ "MDR1" ], "offsets": [ [ 0, 4 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5243" } ] }, { "id": "94cf8b69-0db0-40b7-8185-5d6ca10fc200", "type": "gene", "text": [ "MDR1" ], "offsets": [ [ 0, 4 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5243" } ] }, { "id": "b6a2ee46-6ea2-4325-8d0c-b07c26a4fa30", "type": "variant", "text": [ "C3435T" ], "offsets": [ [ 701, 707 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1045642" } ] }, { "id": "ba08eb5e-ef68-486a-ba2a-479234857d89", "type": "variant", "text": [ "G2677T" ], "offsets": [ [ 714, 720 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "2032582" } ] } ]

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[ { "id": "2e350ae6-ed7b-4556-9ec1-1e2d44ad9d88", "type": "title", "text": [ "TNXB locus may be a candidate gene predisposing to schizophrenia." ], "offsets": [ [ 0, 66 ] ] }, { "id": "f4da333a-b734-4850-938f-9abed7db1fc1", "type": "abstract", "text": [ "We report here on the detection of nine single nucleotide polymorphisms (SNPs) near to the NOTCH4 locus in the search for schizophrenia susceptibility genes in the class III region of the human major histocompatibility complex (MHC). We totally analyzed 122 family trios recruited in the UK. The TDT analysis demonstrated that of the nine SNPs, three were associated with schizophrenia, including rs1009382 (P = 0.00047), rs204887 (P = 0.007), and rs8283 (P = 0.015). Both rs1009382 and rs204887 are present in the TNXB locus. The rs1009382 is a non-synonymous SNP located in exon 23 of the gene and its A to G base change causes a Glu2578Gly substitution. The goodness-of-fit test showed that genotypic distribution of rs1009382 was deviated from Hardy-Weinberg equilibrium due to homozygote excess in the patient group (P = 0.01), suggesting that a double dose of a genetic risk may be involved. Possibly, rs1009382 is a candidate SNP predisposing to a schizophrenic illness. Moreover, the test for linkage disequilibrium (LD) between paired SNPs showed that the nine SNPs studied may be in the same LD block with an unexpected pattern as the strength of LD was not correlated with the distance between paired SNPs. The haplotype analysis suggested that there might be more than one disease-related allele located in the class III region of the MHC, and that these alleles possibly confer either susceptibility or resistance to schizophrenia." ], "offsets": [ [ 67, 1533 ] ] } ]

[ { "id": "979e83f7-915a-4b78-9729-8714e25ba13a", "type": "gene", "text": [ "NOTCH4" ], "offsets": [ [ 159, 165 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4855" } ] }, { "id": "a6a6e5c7-b0b5-48f4-93bb-f966404764f4", "type": "gene", "text": [ "TNXB" ], "offsets": [ [ 0, 4 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7148" } ] }, { "id": "d5cd3e26-6d2b-4c1e-b6c1-6e9214001dc8", "type": "variant", "text": [ "rs1009382" ], "offsets": [ [ 467, 476 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1009382" } ] }, { "id": "da664296-83cb-4f27-9382-d906e3306b72", "type": "variant", "text": [ "rs204887" ], "offsets": [ [ 494, 502 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "204887" } ] }, { "id": "1dc454fd-64cb-4d31-9b37-e48ba9aa81ee", "type": "variant", "text": [ "rs8283" ], "offsets": [ [ 522, 528 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "8283" } ] }, { "id": "f8f854f2-b07d-49dc-a9fa-a1d2a5d2f1f4", "type": "variant", "text": [ "rs1009382" ], "offsets": [ [ 467, 476 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1009382" } ] }, { "id": "b8d30d1e-056f-4895-85c1-2838a82a10aa", "type": "variant", "text": [ "rs204887" ], "offsets": [ [ 494, 502 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "204887" } ] }, { "id": "27fbea7e-8718-4633-8645-97a6a4a1472f", "type": "variant", "text": [ "rs1009382" ], "offsets": [ [ 467, 476 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1009382" } ] }, { "id": "34adcdb1-b9a4-469e-93c3-961e1cf3f2bc", "type": "variant", "text": [ "Glu2578Gly" ], "offsets": [ [ 716, 726 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1009382" } ] }, { "id": "fee1e9d0-cf18-43fe-955b-aa83585fbe0a", "type": "variant", "text": [ "rs1009382" ], "offsets": [ [ 467, 476 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1009382" } ] }, { "id": "f523305d-a8f9-48cb-af7d-c9b8f4e175fd", "type": "variant", "text": [ "rs1009382" ], "offsets": [ [ 467, 476 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1009382" } ] } ]

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[ { "id": "dce5b786-ef90-40d9-8943-ac5dc8e2b3f5", "type": "title", "text": [ "No association between the APOE gene and autism." ], "offsets": [ [ 0, 50 ] ] }, { "id": "3c31c46e-3b7f-4c5e-b7f4-0322aa3d53b6", "type": "abstract", "text": [ "Autism is a neurodevelopmental disorder characterized by stereotypic and repetitive behavior and interests, together with social and communicative deficiencies. The results of several genomic screens suggest the presence of an autism susceptibility locus on chromosome 19p13.2-q13.4. The apolipoprotein E ( APOE ) gene on chromosome 19 encodes for a protein, apoE , whose different isoforms (E2, E3, E4) influence neuronal growth. APOE participates in lipid transport and metabolism, repair, growth, and maintenance of axons and myelin during neuronal development. The APOE protein competes with the Reelin protein for VLDL/ APOE R2 receptor binding. Several studies have reported evidence for an association between autism and the Reelin gene. Based on these data we tested for association between APOE and autism using family-based association methods in a data set of 322 autism families. Three promoter, one intronic, and one 3' UTR single nucleotide polymorphisms (SNPs) in the APOE gene ( -491a/t , -427c/t , -219g/t , 113c/g , and 5361c/t ) as well as the APOE functional polymorphism (E2, E3, E4) were examined and failed to reveal significant evidence that autism is associated with APOE ." ], "offsets": [ [ 51, 1271 ] ] } ]

[ { "id": "bf24c118-1fd4-47ed-a216-a3d861a3fbd2", "type": "gene", "text": [ "apolipoprotein E " ], "offsets": [ [ 340, 357 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "a37bd779-e7e7-4b49-bad0-8359e8cda2f2", "type": "gene", "text": [ "APOE" ], "offsets": [ [ 28, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "82817105-0596-4382-b142-049b9678f837", "type": "gene", "text": [ "apoE" ], "offsets": [ [ 413, 417 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "c96bb4ea-8419-4625-b276-a09236e8e1aa", "type": "gene", "text": [ "APOE" ], "offsets": [ [ 28, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "3937bc2e-7f95-4f9e-aec6-849f2a2c99d9", "type": "gene", "text": [ "APOE" ], "offsets": [ [ 28, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "67c1c034-2cb8-4876-9a92-e9d763337ce3", "type": "gene", "text": [ "Reelin" ], "offsets": [ [ 659, 665 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5649" } ] }, { "id": "7add8d05-075b-4acc-af0e-490845fffbfd", "type": "gene", "text": [ "APOE" ], "offsets": [ [ 28, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "c21f7363-7509-4f74-804d-2be1cc48eacd", "type": "gene", "text": [ "Reelin" ], "offsets": [ [ 659, 665 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "5649" } ] }, { "id": "2a6aa8b9-eeff-466d-a982-97fc47288b4a", "type": "gene", "text": [ "APOE" ], "offsets": [ [ 28, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "d4ab1259-51ac-4095-a7b9-68647dea129a", "type": "gene", "text": [ "APOE" ], "offsets": [ [ 28, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "541b5bdb-dba5-4286-aa96-3d03bcabde98", "type": "gene", "text": [ "APOE" ], "offsets": [ [ 28, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "5c077cfd-0cff-4d6b-8cc8-040489dc018a", "type": "gene", "text": [ "APOE" ], "offsets": [ [ 28, 32 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "aa7199f9-dae7-4c53-895d-f89b14e6e76f", "type": "variant", "text": [ "-491a/t" ], "offsets": [ [ 1061, 1068 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "A-491T" } ] }, { "id": "e1cae161-5721-4ee0-b842-98def4c8676c", "type": "variant", "text": [ "-427c/t" ], "offsets": [ [ 1072, 1079 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C-427T" } ] }, { "id": "c0ada70b-2a68-44e4-9c88-999318ae4c5f", "type": "variant", "text": [ "-219g/t" ], "offsets": [ [ 1083, 1090 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G-219T" } ] }, { "id": "3855b7ca-19f5-4e0d-b868-21346c908d1a", "type": "variant", "text": [ "113c/g" ], "offsets": [ [ 1094, 1100 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C113G" } ] }, { "id": "8793094e-2874-49e0-805e-d966510c0ae0", "type": "variant", "text": [ "5361c/t" ], "offsets": [ [ 1108, 1115 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C5361T" } ] } ]

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[ { "id": "6e7866bc-4ec0-4536-943c-f7d1a5fe251f", "type": "title", "text": [ "No association between the insulin degrading enzyme gene and Alzheimer's disease in a Japanese population." ], "offsets": [ [ 0, 108 ] ] }, { "id": "2f7da9c6-a9c0-4785-9b90-19c8f84f472b", "type": "abstract", "text": [ "Susceptibility to Alzheimer's disease (AD) is thought to be regulated by multiple genetic factors. Recently, three independent studies have reported that loci on chromosome 10q are linked with AD, and the insulin degrading enzyme ( IDE ; MIM 146680) gene located on chromosome 10q23-q25; IDE is located close to the maker D10S583, which exhibits a maximum LOD score for late-onset AD. We examined seven polymorphisms in the IDE gene, the marker D10S583 in the 5' flanking region, and SNPs in introns 1, 3, 11, 20, 21, and 22 ( rs#1999764 , 1855915 , 1970244 , 538469 , 551266 , and 489517 , respectively). Four SNPs in introns 3, 11, 20, and 22 did not exhibit any polymorphisms in the Japanese population that was studied. D10S583 and two SNPs in introns 1 and 21 did not exhibit a significant association with early- or late-onset AD. In addition, no associations were observed for subgroups of AD grouped according to APOE status. The present study indicates that the IDE gene polymorphisms do not confer susceptibility to early- or late-onset AD at least in a Japanese population." ], "offsets": [ [ 109, 1208 ] ] } ]

[ { "id": "52b0878f-69fc-4e8d-84a0-404a575cd721", "type": "gene", "text": [ "insulin degrading enzyme" ], "offsets": [ [ 28, 52 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3416" } ] }, { "id": "1a65d751-af68-41a1-abf6-fa966487c3a3", "type": "gene", "text": [ "IDE" ], "offsets": [ [ 343, 346 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3416" } ] }, { "id": "4a0db4f6-8c42-4ac2-bbc6-e92ba5530256", "type": "gene", "text": [ "IDE" ], "offsets": [ [ 343, 346 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3416" } ] }, { "id": "6b82ed17-5032-4724-a27d-9bd0e555ad1c", "type": "gene", "text": [ "IDE" ], "offsets": [ [ 343, 346 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3416" } ] }, { "id": "2d13d83f-fbab-4228-8e46-a1fa55de2bd0", "type": "gene", "text": [ "APOE" ], "offsets": [ [ 1042, 1046 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "348" } ] }, { "id": "42579967-e581-47bd-a8f7-13bfb554fc38", "type": "gene", "text": [ "IDE" ], "offsets": [ [ 343, 346 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3416" } ] }, { "id": "8f7e3345-7c70-4cac-8c08-8d89c5ff4858", "type": "variant", "text": [ "rs#1999764" ], "offsets": [ [ 642, 652 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1999764" } ] }, { "id": "cf77ee21-03a9-4954-ac25-9773a4cb27f4", "type": "variant", "text": [ "1855915" ], "offsets": [ [ 656, 663 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1855915" } ] }, { "id": "f6bc1974-81b5-401c-8fca-7d83c5e9d44e", "type": "variant", "text": [ "1970244" ], "offsets": [ [ 667, 674 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1970244" } ] }, { "id": "2581cd8f-aceb-4a3b-997f-7f12088fbac7", "type": "variant", "text": [ "538469" ], "offsets": [ [ 678, 684 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "538469" } ] }, { "id": "540eec47-9779-4dc3-8c2e-a59f19eaa9de", "type": "variant", "text": [ "551266" ], "offsets": [ [ 688, 694 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "551266" } ] }, { "id": "2cfe5524-fc59-4b3e-bbc9-ecca4f278a03", "type": "variant", "text": [ "489517" ], "offsets": [ [ 702, 708 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "489517" } ] } ]

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[ { "id": "479440f6-a6d3-4d95-870e-ede175c4d2e0", "type": "title", "text": [ "Common variants in glutamine:fructose-6-phosphate amidotransferase 2 ( GFPT2 ) gene are associated with type 2 diabetes, diabetic nephropathy, and increased GFPT2 mRNA levels." ], "offsets": [ [ 0, 179 ] ] }, { "id": "a47d80a8-01b8-4e6f-8723-681305f54683", "type": "abstract", "text": [ "Increased flux of glucose through the hexosamine biosynthetic pathway has been implicated in insulin resistance, altered insulin secretion, and diabetic nephropathy. Glutamine:fructose-6-phosphate amidotransferase (GFPT) , the rate limiting enzyme in hexosamine biosynthesis, is encoded by the unlinked but highly homologous genes GFPT1 and GFPT2 . We tested the hypothesis that GFPT2 sequence variation contributed to the susceptibility to type 2 diabetes mellitus (T2DM) and diabetic nephropathy in Caucasian and African-American individuals. We identified 11 single nucleotide polymorphisms (SNPs), of which seven were common. A single variant in exon 14, I471V , altered the amino acid sequence, is conserved between human and mouse genes, and was associated with T2DM among Caucasians (P = 0.05). A trend to an association was noted with diabetic nephropathy among African-American individuals (P = 0.15). Several variants in the 3' untranslated region (UTR) and exon 18 were also associated with T2DM in Caucasian individuals (P < 0.05), and the SNP in the 3' UTR was associated with diabetic nephropathy in African-American subjects (P = 0.047). GFPT2 mRNA levels in transformed lymphocytes from study subjects were significantly increased among African-American subjects compared with Caucasian individuals, regardless of diagnosis. Furthermore, the associated allele of the 3' UTR SNP was approximately 2-fold overexpressed. We propose that the 3' UTR variant results in increased GFPT2 mRNA levels with resultant increased hexosamine flux. The I471V variant may contribute to altered protein function or may simply be in linkage disequilibrium with the 3' UTR." ], "offsets": [ [ 180, 1867 ] ] } ]

[ { "id": "591195b4-1322-4b34-904e-3716fbbfe0cf", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 274, 281 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "ea436d0d-cc9f-405e-bad8-41521d59f1a7", "type": "gene", "text": [ "insulin" ], "offsets": [ [ 274, 281 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3630" } ] }, { "id": "042c1774-8c8e-484e-b81e-d24e6b263412", "type": "gene", "text": [ "Glutamine:fructose-6-phosphate amidotransferase (GFPT)" ], "offsets": [ [ 351, 405 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "9945" } ] }, { "id": "29662c65-f4b6-4a77-a932-2817117bf7f4", "type": "gene", "text": [ "GFPT1" ], "offsets": [ [ 517, 522 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "2673" } ] }, { "id": "e478e2a7-6884-4ef7-ab7e-b10ec4d01478", "type": "gene", "text": [ "GFPT2" ], "offsets": [ [ 73, 78 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "9945" } ] }, { "id": "247b8c55-b526-4aff-bf46-54d53004a442", "type": "gene", "text": [ "GFPT2" ], "offsets": [ [ 73, 78 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "9945" } ] }, { "id": "d6c065a8-e315-4ae4-8fc9-a0d8bf304621", "type": "gene", "text": [ "GFPT2" ], "offsets": [ [ 73, 78 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "9945" } ] }, { "id": "bb15db1f-d57f-4b59-98b4-2ccd350e37f5", "type": "gene", "text": [ "GFPT2" ], "offsets": [ [ 73, 78 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "9945" } ] }, { "id": "482d56be-e5f1-4b85-abf1-76a4abe8796e", "type": "variant", "text": [ "I471V" ], "offsets": [ [ 850, 855 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "2303007" } ] }, { "id": "2da19cb8-2733-4218-a598-80c0910b0115", "type": "variant", "text": [ "I471V" ], "offsets": [ [ 850, 855 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "2303007" } ] } ]

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[ { "id": "58b6c2f3-70f0-4100-999e-d1f7302341ec", "type": "title", "text": [ "KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction." ], "offsets": [ [ 0, 92 ] ] }, { "id": "c5225926-b19b-4416-9320-31c24294b3c1", "type": "abstract", "text": [ "PURPOSE: Patients with an acute myocardial infarction (AMI) are of high risk to develop ischemia-induced ventricular arrhythmias, leading to sudden cardiac death (SCD) in about one third of all AMI patients. The individual susceptibility to ischemia-induced arrhythmias may be modified by polymorphisms in genes encoding ion channels. The cardiac ATP-dependent potassium channel (K(ATP)) current is generated by ion channels encoded by the KCNJ11 gene and the SUR2a gene. Opening of the K(ATP) channel during ischemia results in action potential shortening in various studies and may therefore influence the outcome of AMI patients. METHODS: Using a three-primer strategy, we sequenced the complete coding and adjacent 5' and 3' sequences of the intronless KCNJ11 gene (1.3 kb) prospectively in two groups. Patients of group 1 (n = 84) survived three or more transmyocardial infarctions without developing any ventricular arrhythmias. Patients of group 2 died suddenly from their first myocardial infarction (n = 86), most of them witnessed SCDs. RESULTS: We identified a total of six known polymorphisms ( K23E , A190A , L267V , L270V , I337V , and K281K ) and two new polymorphisms ( L267L , 3'UTR +62 G/A ). The allele, genotype, and haplotype frequencies did not differ between the two groups. All polymorphisms were found to be in Hardy-Weinberg equilibrium. In addition, we identified two novel missense mutations in a highly conserved region of the gene in two patients of group 2 ( P266T and R371H ) with yet unknown functional consequences. CONCLUSION: In this study of AMI patients, SCD was not related to polymorphisms in the KCNJ11 gene." ], "offsets": [ [ 93, 1758 ] ] } ]

[ { "id": "14fdd76a-c70b-475e-8fcf-92228ecf511b", "type": "gene", "text": [ "KCNJ11" ], "offsets": [ [ 0, 6 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3767" } ] }, { "id": "460598ef-1edb-41c2-a8d7-80873ac3c756", "type": "gene", "text": [ "SUR2a" ], "offsets": [ [ 556, 561 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "10060" } ] }, { "id": "1d4c56f1-2105-4ab3-9637-fd7b503a58b5", "type": "gene", "text": [ "KCNJ11" ], "offsets": [ [ 0, 6 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3767" } ] }, { "id": "ff4187a6-e755-4a03-b9a9-f9f248b76c0d", "type": "gene", "text": [ "KCNJ11" ], "offsets": [ [ 0, 6 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3767" } ] }, { "id": "21457bdf-09f6-45d5-94e5-be2a48b1c813", "type": "variant", "text": [ "K23E" ], "offsets": [ [ 1206, 1210 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "5219" } ] }, { "id": "af8f53d9-5561-48f3-a3a7-67a156e48289", "type": "variant", "text": [ "A190A" ], "offsets": [ [ 1214, 1219 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "5218" } ] }, { "id": "497adc07-d180-43f6-bd79-698a91838c85", "type": "variant", "text": [ "L267V" ], "offsets": [ [ 1223, 1228 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "L267V" } ] }, { "id": "07aa494b-5333-4018-8fa5-608d1fc5bd88", "type": "variant", "text": [ "L270V" ], "offsets": [ [ 1232, 1237 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "1800467" } ] }, { "id": "1be05079-e1f8-4232-a248-c91b92d2155f", "type": "variant", "text": [ "I337V" ], "offsets": [ [ 1241, 1246 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "5215" } ] }, { "id": "2938acbd-dc01-44d6-ada7-67bed435ab57", "type": "variant", "text": [ "K281K" ], "offsets": [ [ 1254, 1259 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "K281K" } ] }, { "id": "a285b1b2-3747-46d9-8242-feb7f49ce21a", "type": "variant", "text": [ "L267L" ], "offsets": [ [ 1290, 1295 ] ], "normalized": [ { "db_name": "dbSNP", "db_id": "5216" } ] }, { "id": "491ad0b2-57b9-4e6b-a6b2-f655610d8866", "type": "variant", "text": [ "3'UTR +62 G/A" ], "offsets": [ [ 1299, 1312 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G62A" } ] }, { "id": "197d0625-933f-4a9b-8d27-d7569226fa79", "type": "variant", "text": [ "P266T" ], "offsets": [ [ 1595, 1600 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "P266T" } ] }, { "id": "efe632f6-9212-4038-8972-d683a3db27b9", "type": "variant", "text": [ "R371H" ], "offsets": [ [ 1607, 1612 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "R371H" } ] } ]

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[ { "id": "02470daf-ffbd-4ad9-84af-64051fb1261a", "type": "title", "text": [ "Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis." ], "offsets": [ [ 0, 91 ] ] }, { "id": "9065d996-bfad-420f-a762-9d86a1f34a27", "type": "abstract", "text": [ "BACKGROUND: The antivirally active MxA protein is induced by interferon (IFN) alpha/beta and inhibits the replication of single-stranded RNA viruses including measles virus (MV). The authors investigated whether the MxA gene contributed to the development of subacute sclerosing panencephalitis (SSPE) in Japanese individuals. METHODS: Single-nucleotide polymorphisms (SNP) in the promoter region of the MxA gene were screened, association studies were performed between two SNP and SSPE, and then a functional difference in the promoter activities of the two SNP was investigated by a dual luciferase reporter assay. RESULTS: Four SNP were found ( -88 G/T , -123 C/A , -200 T/C , and -213 G/T ), and SSPE patients exhibited a higher frequency of both the -88T allele and the -88TT genotype than controls (p = 0.040 and 0.003). The IFN-induced up-regulation of the MxA promoter activity of the sequence with -88T was found to be significantly higher than that with G. CONCLUSIONS: MxA promoter -88 G/T SNP may confer host genetic susceptibility to SSPE in Japanese individuals. The finding that homozygotes of the MxA -88T allele with a high MxA -producing capability were more frequently seen in SSPE patients suggests that the MxA protein promotes the establishment of persistent MV infection of neural cells." ], "offsets": [ [ 92, 1423 ] ] } ]

[ { "id": "f032e12d-f995-4701-9b96-289b4f50275e", "type": "gene", "text": [ "MxA" ], "offsets": [ [ 12, 15 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4599" } ] }, { "id": "9f7a30c7-9012-4e38-9992-f093e00f8264", "type": "gene", "text": [ "MxA" ], "offsets": [ [ 12, 15 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4599" } ] }, { "id": "7328531f-12cc-402c-8cfd-fd4191077b38", "type": "gene", "text": [ "MxA" ], "offsets": [ [ 12, 15 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4599" } ] }, { "id": "8d144ed8-67b4-41b7-b91e-09bb874e9a87", "type": "gene", "text": [ "MxA" ], "offsets": [ [ 12, 15 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4599" } ] }, { "id": "93d9ff46-0ed9-4164-be55-0c5988a10622", "type": "gene", "text": [ "MxA" ], "offsets": [ [ 12, 15 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4599" } ] }, { "id": "6fac7617-32a7-447c-8ff9-6a8a9c64af4c", "type": "gene", "text": [ "MxA" ], "offsets": [ [ 12, 15 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4599" } ] }, { "id": "d888caf1-a036-45f3-a363-f5683b4bdc73", "type": "gene", "text": [ "MxA" ], "offsets": [ [ 12, 15 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4599" } ] }, { "id": "bbeb5ade-19f8-475c-95e6-1a0ae4359344", "type": "gene", "text": [ "MxA" ], "offsets": [ [ 12, 15 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "4599" } ] }, { "id": "e6f1ea94-7f0e-42b7-a8b8-b21ee4ab08c5", "type": "variant", "text": [ "-88 G/T" ], "offsets": [ [ 747, 754 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G-88T" } ] }, { "id": "e890f573-bb50-4585-8b01-d169a67ebcd6", "type": "variant", "text": [ "-123 C/A" ], "offsets": [ [ 758, 766 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C-123A" } ] }, { "id": "de7b7aa9-5fff-4f33-b59b-03516265a4a5", "type": "variant", "text": [ "-200 T/C" ], "offsets": [ [ 770, 778 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "T-200C" } ] }, { "id": "741bfced-64a1-44f3-b7ec-0f9c1af4e35a", "type": "variant", "text": [ "-213 G/T" ], "offsets": [ [ 786, 794 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G-213T" } ] }, { "id": "4a69c8e0-121c-42c3-85d0-8e43d74a0167", "type": "variant", "text": [ "-88 G/T" ], "offsets": [ [ 747, 754 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "G-88T" } ] } ]

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[ { "id": "e5daca47-e7df-4c8f-8643-90ee6bb04752", "type": "title", "text": [ "-160C/A polymorphism in the E-cadherin gene promoter and risk of hereditary, familial and sporadic prostate cancer." ], "offsets": [ [ 0, 118 ] ] }, { "id": "9666e576-c959-42ac-a172-01f0f2c40ac4", "type": "abstract", "text": [ "The E-cadherin (CDH1) gene has been associated with prostate carcinogenesis. The C/A polymorphism--160 base pairs relative to the transcription start site has been shown to decrease gene transcription. We analyzed the association between this polymorphism and the risk of sporadic, familial (2 close relatives) and hereditary (3 or more close relatives) prostate cancer. We combined data from 3 population-based epidemiologic studies in Sweden encompassing altogether 1,036 prostate cancer cases and 669 controls that were genotyped for the short nucleotide polymorphism. Odds ratios with 95% confidence intervals were estimated through unconditional logistic regression. We found no significant association between the A-allele and sporadic (OR = 1.0; 95% CI = 0.8-1.2) or familial (OR = 1.4; 95% CI = 0.9-2.2) prostate cancer. In contrast, risk of hereditary cancer was increased among heterozygote CA carriers (OR = 1.7; 95% CI = 1.0-2.7) and particularly among homozygote AA carriers (OR = 2.6; 95% CI = 1.4-4.9). Our data indicate that the -160 single nucleotide polymorphism in CDH1 is a low-penetrant prostate cancer susceptibility gene that might explain a proportion of familial and notably hereditary prostate cancer." ], "offsets": [ [ 119, 1350 ] ] } ]

[ { "id": "7c8925dd-a0d1-4650-9086-3c91b6b08f47", "type": "gene", "text": [ "E-cadherin" ], "offsets": [ [ 30, 40 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "999" } ] }, { "id": "11a32dcf-650a-44fc-a4c3-856f6b2e0d7a", "type": "variant", "text": [ "C/A polymorphism--160 base pairs relative to the transcription start site" ], "offsets": [ [ 203, 276 ] ], "normalized": [ { "db_name": "HGVS-like", "db_id": "C-160A" } ] } ]

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[ { "id": "29b88d37-ade0-4b72-ac71-be3459c495ac", "type": "title", "text": [ "Polymorphisms of the interleukin-1 beta gene are associated with increased risk of non-small cell lung cancer." ], "offsets": [ [ 0, 112 ] ] }, { "id": "a7d6a9a3-a57f-48a9-adbe-d7bcb029dac4", "type": "abstract", "text": [ "Lung cancer is one of the leading causes of cancer death worldwide. Tobacco smoking is the main risk factor for lung cancer. Less than 20% of smokers develop lung cancer in their lifetime, however, indicating individual variations in lung cancer risk. Pro-inflammatory cytokines produced by inflammatory cells have been associated with inflammatory diseases and cancer. The IL1B gene, encoding IL-1beta cytokine, contains several single nucleotide polymorphisms (SNPs). Two of these are in the promoter region, at positions -511 (C-T) and -31 (T-C) . These polymorphisms have been associated with increased risk of developing a number of inflammatory diseases and gastric carcinoma. We genotyped the 2 polymorphisms in 251 non-small cell lung cancer patients from Norway and 272 healthy controls chosen from the general Norwegian population. The T allele at the -31 SNP (p = 0.01) and C allele at -511 SNP (p < 0.01) were over represented in lung cancer cases. The homozygote subjects were particularly at higher risk of lung cancer with odds ratio of 2.39 (95% CI = 1.29-4.44) for -31T/T and 2.51 (95% CI = 1.47-4.58) for -511C/C genotypes. In view of the significance of the p53 gene in lung carcinogenesis, we also analyzed the IL1B genotypes in relation to p53 mutations in the tumors. The results indicated that subjects having homozygote genotypes were more likely to have a mutation in the p53 gene (p = 0.05). This is the first study to provide evidence for an association of 1L1B gene polymorphisms with lung cancer risk." ], "offsets": [ [ 113, 1666 ] ] } ]

[ { "id": "e993f6cc-ebae-4329-a8d4-3ae0f376ab48", "type": "gene", "text": [ "IL1B" ], "offsets": [ [ 488, 492 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3553" } ] }, { "id": "d91fb3a5-952f-46a3-86b2-1524fa117b31", "type": "gene", "text": [ "IL-1beta" ], "offsets": [ [ 510, 518 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "3553" } ] }, { "id": "85de2741-d117-41c4-b4cf-9f987166a85f", "type": "gene", "text": [ "p53" ], "offsets": [ [ 1306, 1309 ] ], "normalized": [ { "db_name": "NCBI Gene", "db_id": "7157"