shlokn/autogkb huggingface dataset:
Article: Influence of UGT1A1 and SLC22A6 polymorphisms on the population pharmacokinetics and pharmacodynamics of raltegravir in HIV-infected adults: a NEAT001/ANRS143 sub-study
Gene: UGT1A1
Variant/haplotype: rs8175347
Drug(s): raltegravir
Phenotype category: Efficacy
Significant: no
Association: Genotype (TA)7/(TA)7 is associated with increased response to raltegravir in people with HIV Infections as compared to genotype (TA)6/(TA)6.
Notes: In an analysis of patients randomized to the ritonavir-boosted darunavir plus raltegravir arm in the Phase III NEAT 001/ANRS 143 study, patients with low UGT1A1 activity showed a lower incidence of virological failure at 96 weeks.
Article: Polymorphisms in ABCB1 and CYP19A1 genes affect anastrozole plasma concentrations and clinical outcomes in postmenopausal breast cancer patients
Gene: ABCB1
Variant/haplotype: rs1045642
Drug(s): anastrozole
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype GG is not associated with concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AA + AG.
Notes: Alleles have been complemented to the positive strand.
Article: Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences
Gene: CYP2B6
Variant/haplotype: rs3745274
Drug(s): methadone
Phenotype category: Dosage
Significant: no
Association: Allele T is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G.
Article: Impact of Single Nucleotide Polymorphisms (SNPs) on Immunosuppressive Therapy in Lung Transplantation
Gene: ABCB1
Variant/haplotype: rs9282564
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype CT is associated with increased concentrations of tacrolimus in people with lung transplantation as compared to genotype TT.
Notes: Alleles given as the reverse strand G and A. Concentrations measured as trough blood drug concentrations. Differences in concentrations between AG and AA patients were in the first month after transplant. No patients had homozygous GG genotype.
Article: No significant influence of OCT1 genotypes on the pharmacokinetics of morphine in adult surgical patients
Gene: SLC22A1
Variant/haplotype: rs34130495
Drug(s): morphine
Phenotype category: Dosage
Significant: no
Association: Allele A is not associated with dose of morphine in people with Pain, Postoperative as compared to allele G.
Notes: Analyzed as part of haplotypes with rs12208357, rs34059508 and rs72552763. No significant association between haplotypes and PCA doses of morphine.
Article: Imipramine metabolism in relation to the sparteine and mephenytoin oxidation polymorphisms--a population study
Gene: CYP2D6
Variant/haplotype: CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5
Drug(s): imipramine
Phenotype category: Metabolism/PK
Significant: not stated
Association: CYP2D6 *3/*4 + *4/*4 + *5/*5 are associated with decreased metabolism of imipramine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*3 + *1/*4.
Notes: The medians of the hydroxylation ratios (i.e. 2-hydroxy-metabolite over parent compound) were higher in extensive metabolizers of sparteine (EMs) as compared with poor metabolizers (PMs). No statistic given, but none of the ratios separated the two phenotypes (EM vs PM) completely.
Article: Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks
Gene: IL6
Variant/haplotype: rs1800795
Drug(s): almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele C.
Notes: Please note that alleles have been complemented to the positive strand.
Article: Therapeutic efficacy of generic artemether–lumefantrine in the treatment of uncomplicated malaria in Ghana: assessing anti-malarial efficacy amidst pharmacogenetic variations
Gene: CYP2B6
Variant/haplotype: CYP2B6*1, CYP2B6*6, CYP2B6*18
Drug(s): dihydroartemisinin
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2B6 *6/*6 + *18/*18 + *1/*6 is associated with decreased concentrations of dihydroartemisinin in people with Malaria, Falciparum as compared to CYP2B6 *1/*1.
Notes: "There were significant differences in plasma artemether drug concentrations between CYP2B6*1/*6 and *1/*1 carriers (p = 0.039) with another significant difference observed between plasma DHA metabolite concentrations between CYP2B6*1/*6 versus CYP2B6*1/*1 (p = 0.000) and combined CYP2B6*6/*6 + *18/*18 versus CYP2B6*1/*1 (p = 0.012)." "The analysis combined non-expressor CYP2B6*6/6 and *18/*18 due to their numbers and functional effects."
Article: Pharmacogenetics of plasma efavirenz exposure in HIV-infected adults and children in South Africa
Gene: CYP2B6
Variant/haplotype: rs4803419
Drug(s): efavirenz
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele T is associated with increased concentrations of efavirenz in people with HIV Infections as compared to allele C.
Notes: When considered as part of a composite (rs3745274 T, rs28399499 C, and rs4803419 T), the T allele was strongly associated with plasma efavirenz concentrations (plasma [EFV]) [beta=0.28, 95% CI (0.21, 0.35) p=2.4 E-11]. In a final multivariable model  the T allele was associated with a 6% increase in plasma [EFV] (beta=0.06). Post-hoc sensitivity analysis, in which two extreme outliers were excluded from analysis (N=111), showed that the T allele was associated with a 12% increase in plasma [EFV]. Multi-level mixed effects models predicted plasma [EFV] as a function of 1) fixed age effect, time after dose, CYP2B6 composite genotype T,C,T and 2) random effects of the individual to account for w/in individual correlations, genotype TT and CT were associated with a 1.4 and 1.2 fold increase in plasma [EFV], respectively.
Article: Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks
Gene: IL6
Variant/haplotype: rs1800795
Drug(s): aspirin, diclofenac, ibuprofen, indomethacin, ketorolac, naproxen
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with clinical benefit to aspirin, diclofenac, ibuprofen, indomethacin, ketorolac or naproxen in people with Migraine without Aura as compared to allele C.
Notes: Please note that alleles have been complemented to the positive strand.
Article: Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta‐Analysis
Gene: SLC22A1
Variant/haplotype: rs622342
Drug(s): metformin
Phenotype category: Efficacy
Significant: no
Association: Allele C is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A.
Notes: This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.
Article: Voriconazole therapeutic drug monitoring including analysis of CYP2C19 phenotype in immunocompromised pediatric patients with invasive fungal infections
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*2, CYP2C19*17
Drug(s): voriconazole
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2C19 *1/*1 + *1/*2 (assigned as normal metabolizer and intermediate metabolizer phenotype) is associated with increased dose-adjusted trough concentrations of voriconazole in children with Hematologic Neoplasms or hematopoietic stem cell transplantation as compared to CYP2C19 *1/*17 + *17/*17 (assigned as ultrarapid metabolizer and rapid metabolizer phenotype) .
Notes: "Ctrough of VCZ were significantly higher in NM and IM groups compared with RM, and UM groups." Only *2 and *17 were measured.
Article: Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma
Variant/haplotype: rs35661809
Drug(s): salbutamol
Phenotype category: Efficacy
Significant: yes
Association: Allele G is associated with increased response to salbutamol in children with as compared to allele A.
Notes: Direction of the response not explicit stated in the article.
Article: Genetic Variation at the LDL Receptor and HMG CoA Reductase Gene Loci, Lipid Levels, Statin Response, and Cardiovascular Disease Incidence in PROSPER
Gene: LDLR
Variant/haplotype: rs1433099
Drug(s): pravastatin
Phenotype category: Efficacy
Significant: not stated
Association: Genotype TT is associated with increased response to pravastatin in people with Vascular Diseases as compared to genotype CC.
Notes: PROSPER study. Baseline Lipid Values, LDL-C lowering response,trial CHD and CVD outcomes were measured.  The response was in terms of LDL-C lowering in men and in incident CHD and CVD risk.  40 mg/day pravastatin.
Article: Association of Pharmacogenetic Markers with Premature Discontinuation of First-line Anti-HIV Therapy: An Observational Cohort Study
Gene: ABCC2
Variant/haplotype: rs717620
Drug(s): tenofovir
Phenotype category: Toxicity
Significant: no
Association: Genotypes CT + TT is not associated with increased discontinuation of tenofovir in people with HIV Infections as compared to genotype CC.
Article: A GENOME-WIDE ASSOCIATION STUDY OF BRONCHODILATOR RESPONSE IN LATINOS IMPLICATES RARE VARIANTS
Gene: NCOA3
Variant/haplotype: rs115501901
Drug(s): salbutamol
Phenotype category: Efficacy
Significant: yes
Association: Genotype CT is associated with increased response to salbutamol in children with Asthma as compared to genotype CC.
Notes: The allele associated with increased response and low frequency is not explicitly stated.  Response is increased for carriers of the rare, minor allele.  GALAII genotyping was done using the Affymetrix LAT1 Array, which was designed to capture Latino population variation.
Article: Interindividual Variability in Pharmacokinetics of Generic Nucleoside Reverse Transcriptase Inhibitors in TB/HIV Co-infected Ghanaian Patients: UGT2B7*1C is Associated with Faster Zidovudine Clearance and Glucuronidation
Gene: UGT2B7
Variant/haplotype: rs28365062
Drug(s): zidovudine
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele G is associated with increased metabolism of zidovudine as compared to allele A.
Notes: The G allele carriers had 57% lower mean AUC (P = .029, unpaired t test), 196% higher mean CL/F (P = .004, unpaired t test; Figure 3B), and 67% shorter mean elimination half-life (P = .030, unpaired t test) compared with A allele carriers
Article: Association between ADAM33 Single-Nucleotide Polymorphisms and Treatment Response to Inhaled Corticosteroids and a Long-Acting Beta-Agonist in Asthma
Gene: ADAM33
Variant/haplotype: rs2853209
Drug(s): corticosteroids, selective beta-2-adrenoreceptor agonists
Phenotype category: Efficacy
Significant: yes
Association: Genotype AA is associated with decreased clinical benefit to corticosteroids and selective beta-2-adrenoreceptor agonists in people with Asthma as compared to genotype TT.
Notes: as measured by FEV1 (10.2%) after three months of ICS+LABA. Caution this is an A/T variant in a gene on the minus strand. Since other variants in this paper were measured on the minus/coding strand this has been complemented to the assumed plus chromosomal strand. "The SNP rs2853209 (TT genotype) showed a significantly lower improvement in FEV1 (4.6%) as compared to the AA genotype, which showed a greater improvement in FEV1 (10.2%) after three months of ICS+LABA."
Article: Relationship of CYP3A5 genotype and ABCB1 diplotype to tacrolimus disposition in Brazilian kidney transplant patients
Gene: ABCB1
Variant/haplotype: rs1128503
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype AA is associated with decreased clearance of tacrolimus in people with Kidney Transplantation as compared to genotypes AG + GG.
Notes: 3 - 12 months post-transplant. In multivariate linear regression analysis, the AAA/AAA haplotype (rs1045642, rs1128503, rs2032582) showed a significant effect on dose-adjusted trough concentrations (C0/D) of tacrolimus (those with the AAA/AAA haplotype have increased C0/D compared to those with non-AAA/AAA haplotypes). In chi-squared analyses, no significant association was seen for trough concentrations or dose. Please note alleles have been complemented to the plus chromosomal strand.
Article: Effect of ADRA2A gene polymorphisms on the anesthetic and analgesic effects of dexmedetomidine in Chinese Han women with cesarean section
Gene: ADRA2A
Variant/haplotype: rs775887911
Drug(s): dexmedetomidine
Phenotype category: Efficacy
Significant: yes
Association: Genotypes CT + TT are associated with decreased response to dexmedetomidine in women with Pain, Postoperative as compared to genotype CC.
Notes: Patients with the CC genotype had significantly increased pain thresholds and significantly reduced VAS pain scores post-surgery than women with the CT or TT genotypes. There was no significant difference in pain thresholds between genotype group pre-surgery.
Article: An Acenocoumarol Dosing Algorithm Using Clinical and Pharmacogenetic Data in Spanish Patients with Thromboembolic Disease
Gene: APOE
Variant/haplotype: rs7412
Drug(s): acenocoumarol
Phenotype category: Dosage
Significant: not stated
Association: Allele T is not associated with dose of acenocoumarol.
Notes: This variant was not significantly associated with acenocoumarol dose, though it did explain 1.3% of the variability in dose. Clinical variables (Age, BMI, Enzyme inducers status and Amiodarone status) explained 22% of the variability in dose. This study developed an algorithm for acenocoumarol dosing using clinical and pharmacogenetic data.
Article: Impact of the CYP2C19 Genotype on Voriconazole Exposure in Adults with Invasive Fungal Infections
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*2, CYP2C19*17
Drug(s): voriconazole
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2C19 *1/*17 is associated with decreased concentrations of voriconazole in people with Mycoses as compared to CYP2C19 *1/*1 + *1/*2 + *2/*17 + *2/*2.
Notes: The study did not find a significant difference in trough concentration between the NM (*1/*1) (4.27 ± 2.4 mg/l) and the IM/PM (*1/*2 + *2/*17 + *2/*2) (4.13 ± 1.6 mg/l) groups, therefore these groups were combined for comparison. The mean steady-state trough concentrations were 1.35±0.7, 2.97±2.3, and 4.26 ± 2.2 mg/l in patients with the CYP2C19 *17/*17 (UMs), *1/*17 (RMs), and other genotypes, respectively (P=0.02 for both the *17/*17 and *1/*17 genotypes compared with other genotypes. More subjects with the RM/UM phenotype had a subtherapeutic trough concentration (52 vs. 16%, P = 0.0028).
Article: The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response
Variant/haplotype: rs9920375
Drug(s): platinum
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.
Notes: 26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.
Article: A cis-eQTL in OPRM1 is Associated with Subjective Response to Alcohol and Alcohol Use
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): ethanol
Phenotype category: Other
Significant: no
Association: Genotypes AG + GG are not associated with response to ethanol as compared to genotype AA.
Notes: No significant associations between this variant and reported sensitivity to alcohol overall, during the last three-month period of drinking, during the participants' first five drinking episodes or at the period of heaviest drinking in their lives; or with reported or experimental sensitivity to the sedating or stimulatory effects of alcohol or subjective intoxication.
Article: Correlation of P2RX7 gene rs1718125 polymorphism with postoperative fentanyl analgesia in patients with lung cancer
Gene: P2RX7
Variant/haplotype: rs1718125
Drug(s): fentanyl
Phenotype category: Dosage
Significant: yes
Association: Genotypes CT + TT are associated with increased dose of fentanyl in people with Lung Neoplasms and Pain, Postoperative as compared to genotype CC.
Notes: Patients with the CT or TT genotypes had significantly increased postoperative fentanyl consumption at 6, 24 and 48 hours after surgery. Please note that alleles have been complemented to the positive strand.
Article: Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients
Gene: RAB7A
Variant/haplotype: rs4548
Drug(s): vincristine
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype CT is associated with increased exposure to vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to genotype CC.
Notes: in a subset of study of vincristine-induced peripheral neuropathy with PK measurements.
Article: The Effect of Gene Variants on Levonorgestrel Pharmacokinetics when Combined with Antiretroviral Therapy containing Efavirenz or Nevirapine
Gene: CYP2B6
Variant/haplotype: rs3745274
Drug(s): efavirenz
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotypes GT + TT are associated with increased concentrations of efavirenz in women with HIV Infections as compared to genotype GG.
Notes: in patients treated with levonorgestrel implant plus efavirenz. "C12-14h values were 2.1, 2.6, and 8.7 mg/L in GG, GT, and TT genotype groups, respectively (76% difference between homozygote groups)."
Article: Assessing the Contribution of Opioid- and Dopamine-Related Genetic Polymorphisms to the Abuse Liability of Oxycodone
Gene: OPRK1
Variant/haplotype: rs6473797
Drug(s): oxycodone
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to oxycodone as compared to allele C.
Notes: No association between this variant and analgesic response to oxycodone, as assessed by cold pressor test, subjective effects of oxycodone.
Article: Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients
Gene: ANGPT2
Variant/haplotype: rs1375668
Drug(s): bevacizumab
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele A.
Article: Effect of CYP3A4*22, CYP3A5*3, and CYP3A Combined Genotypes on Cyclosporine, Everolimus, and Tacrolimus Pharmacokinetics in Renal Transplantation
Gene: CYP3A4
Variant/haplotype: CYP3A4*1, CYP3A4*22
Drug(s): cyclosporine
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP3A4 *1/*1 is associated with increased clearance of cyclosporine in people with Kidney Transplantation as compared to CYP3A4 *1/*22 + *22/*22.
Notes: Carriers of the *22 allele had 15% lower clearance compared with non-carriers. CYP3A4*22 explained 4% of the variability in cyclosporine clearance.
Article: NUDT15 Polymorphisms Alter Thiopurine Metabolism and Hematopoietic Toxicity
Gene: NUDT15
Variant/haplotype: NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*5
Drug(s): mercaptopurine
Phenotype category: Metabolism/PK
Significant: yes
Association: NUDT15 *1/*1 (assigned as high activity phenotype) is associated with increased metabolism of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*3 + *1/*5 + *2/*3 + *3/*3 + *3/*5 (assigned as intermediate and low activity phenotype) .
Notes: NUDT15 converts thioguanosine triphosphate (TGTP) into thioguanosine monophosphate (TGMP), preventing the incorporation of thiopurine metabolites into DNA (DNA-TG), and thereby negatively regulating thiopurine activation and resulting cytotoxicity. The ratio of DNA-TG (in white blood cells) to mercaptopurine dosage was assessed (that is, the amount of DNA-TG converted from every unit mercaptopurine dose). Two cohorts were used: Singaporean and Japanese. Those with the *1/*1 genotype (normal activity) had the lowest ratio, followed by those with *1/*3 or *1/*5 genotype (intermediate activity) and then the *2/*3, *3/*3 or *3/*5 genotype (low activity).
Article: ABCB1 Variation and Treatment Response in AIDS Patients: Initial Results of the Henan Cohort
Gene: ABCB1
Variant/haplotype: rs2032582
Drug(s): lamivudine, nevirapine, zidovudine
Phenotype category: Efficacy
Significant: not stated
Association: Allele A is associated with response to lamivudine, nevirapine or zidovudine in people with HIV Infections as compared to allele C.
Notes: This paper was unclear as to which allele was associated with increased or decreased response as measured by change in CD4+ T cell counts. The significance of this association was greater if rs1045642 was included.
Article: Tell-Tale SNPs: The Role of CYP2B6 in Methadone Fatalities
Gene: CYP2B6
Variant/haplotype: rs8192719
Drug(s): S-EDDP
Phenotype category: Metabolism/PK
Significant: no
Association: Allele T is not associated with concentrations of (S)-EDDP as compared to allele C.
Article: Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4‐hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus
Gene: CYP2B6
Variant/haplotype: rs4802101
Drug(s): cyclophosphamide
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele C is associated with decreased metabolism of cyclophosphamide in people with Lupus erythematosus as compared to allele T.
Notes: The plasma concentration of cyclophosphamide (CPA) 20 hours post dose (C20h) was not significantly different between genotypes, but plasma concentrations of the  active CPA metabolite of 4-OH-CPA was significantly influenced by CYP2B6 -750T>C and CYP2C19*2 genotype (p<0.001). Patients with CYP2B6 -750TT genotype had significantly higher 4-OH-CPA concentration (C20h median= 20.9 ng/mL) as compared to the TC and CC genotype (C20h median=12.4 and 10.2 ng/ml, respectively).
Article: Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European American and African Americans
Gene: VKORC1
Variant/haplotype: rs7294
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Genotypes CT + TT are associated with increased dose of warfarin as compared to genotype CC.
Notes: in European Americans.
Article: Pharmacometric Characterization of Efavirenz Developmental Pharmacokinetics and Pharmacogenetics in HIV-Infected Children
Gene: CYP2B6
Variant/haplotype: rs3745274
Drug(s): efavirenz
Phenotype category: Metabolism/PK
Significant: not stated
Association: Genotype TT is associated with decreased clearance of efavirenz in children with HIV Infections.
Notes: Authors describe a population pharmacokinetics covariate model for efavirenz which included the effect of the TT genotype on oral clearance.