shlokn/autogkb huggingface dataset:
Article: Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment
Gene: OPRK1
Variant/haplotype: rs1051660
Drug(s): morphine
Phenotype category: Dosage, Efficacy
Significant: yes
Association: Allele A is associated with decreased dose of morphine in people with Pain as compared to allele C.
Notes: Please note that alleles have been complemented to the positive strand.; An association was observed between this variant and a patient's need to escalate their dose of morphine, but there was no association between this variant and a patient's initial dose requirement.
Article: Association of corticotropin releasing hormone receptor 2 (CRHR2) genetic variants with acute bronchodilator response in asthma
Gene: CRHR2
Variant/haplotype: rs2284220
Drug(s): salbutamol
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with decreased response to salbutamol in people with Asthma as compared to allele A.
Article: Polymorphism of Drug Transporters, Rather Than Metabolizing Enzymes, Conditions the Pharmacokinetics of Rasagiline
Gene: COMT
Variant/haplotype: rs4680
Drug(s): rasagiline
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype AA is associated with decreased concentrations of rasagiline in healthy individuals as compared to genotypes AG + GG.
Notes: and lower AUC0-∞/DW and Cmax  which remained significant after Bonferroni.
Article: Hypertension Susceptibility Loci and Blood Pressure Response to Antihypertensives – Results from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study
Gene: CHIC2
Variant/haplotype: rs871606
Drug(s): atenolol
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to atenolol in people with Hypertension as compared to allele C.
Notes: Not significant when using Bonferroni-corrected alpha of 0.0014. Response was assessed by change in diastolic blood pressure (DBP) after 9 weeks of treatment.
Article: The effect of CYP2C9 and VKORC1 genetic polymorphisms on warfarin dose requirements in a pediatric population
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*3
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: CYP2C9 *3 is associated with decreased dose of warfarin in children as compared to CYP2C9 *1/*1.
Notes: The average daily warfarin dose required for maintenance therapy in patients with the CYP2C9*3was 3.98±1.13, whereas it was 4.40±1.39 in those without this mutation.
Article: Cytotoxic T lymphocyte‐associated antigen‐4 (CTLA-4) gene polymorphisms in a cohort of Egyptian patients with immune thrombocytopenia (ITP)
Gene: CTLA4
Variant/haplotype: rs3087243
Drug(s): avatrombopag, corticosteroids, eltrombopag, rituximab
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with increased clinical benefit to avatrombopag, corticosteroids, eltrombopag or rituximab Thrombocytopenia as compared to allele A.
Notes: "There was no correlation between CTLA-4 (rs: 231775 and rs: 3087243) A/G SNPs were not correlated to the response to all lines of therapy assessed (corticosteroids, thrombopoietin receptor agonists, splenectomy, and rituximab)."
Article: Pharmacodynamic and kinetic effect of rabeprazole on serum gastrin level in relation to CYP2C19 polymorphism in Chinese Hans
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*2, CYP2C19*3
Drug(s): rabeprazole
Phenotype category: Efficacy
Significant: no
Association: CYP2C19 *1/*1 is not associated with response to rabeprazole in healthy individuals as compared to CYP2C19 *1/*2 + *1/*3.
Notes: No significant differences in median 24 hour intragastric pH or serum gastrin area under the concentration-time curve from 0-24 hours (AUC0-24) were seen between the two genotype groups. Subjects were given rabeprazole for 8 days; 24 hour intragastric pH and serum gastrin AUC were measured on day 1 and day 8 after rabeprazole administration. Please note that the *2 and *3 alleles were referred to by their previous designations (CYP2C19*m1 and *m2, respectively).
Article: Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*2, CYP2C9*3
Drug(s): methadone
Phenotype category: Metabolism/PK
Significant: no
Association: CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to CYP2C9 *1/*1 + *1/*2.
Notes: No significant difference in concentrations of (R)-, (S)- or (R,S)-methadone between genotypes. No details about which specific variants/alleles were tested for.
Article: Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741
Gene: DPYD
Variant/haplotype: rs1801159
Drug(s): FOLFIRI, FOLFOX, irinotecan, oxaliplatin
Phenotype category: Efficacy
Significant: no
Association: Genotypes CC + CT is not associated with response to FOLFIRI, FOLFOX, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotype TT.
Notes: Patients were taking either IFL (irinotecan + fluorouracil + leucovorin; n=114), FOLFOX (fluorouracil + oxaliplatin + leucovorin; n=299) or IROX (irinotecan + oxaliplatin; n=107). No significant association was seen between this variant and confirmed response rate, overall survival or time to progression in any of the treatment groups OR all treatment groups considered together. Significance level was set at 0.01.
Article: Association between the rs7583431 single nucleotide polymorphism close to the activating transcription factor 2 gene and the analgesic effect of fentanyl in the cold pain test
Gene: ATF2
Variant/haplotype: rs2302663
Drug(s): fentanyl
Phenotype category: Dosage
Significant: no
Association: Allele G is not associated with dose of fentanyl in people with Pain, Postoperative as compared to allele A.
Article: Safe treatment of thiopurine S-methyltransferase deficient Crohn’s disease patients with azathioprine
Gene: TPMT
Variant/haplotype: TPMT*1, TPMT*3A
Drug(s): azathioprine
Phenotype category: Dosage, Efficacy, Toxicity
Significant: not stated
Association: TPMT *3A/*3A is associated with decreased dose of azathioprine in people with Crohn Disease as compared to TPMT *1/*1.
Notes: Toxicity could be avoided and treatment was still effective if the azathioprine dose was dramatically lowered.
Article: Effect of ERCC1 polymorphisms on the response to platinum-based chemotherapy: A systematic review and meta-analysis based on Asian population
Gene: ERCC1
Variant/haplotype: rs3212986
Drug(s): Platinum compounds
Phenotype category: Efficacy
Significant: no
Association: Genotypes AA + AC is not associated with increased clinical benefit to Platinum compounds in people with Neoplasms as compared to genotype CC.
Notes: Authors perform meta-analysis using several models looking at response and OS and subgroup analysis by cancer type.
Article: Pharmacogenetics and Pharmacokinetics of Moxifloxacin in MDR-TB Patients in Indonesia: Analysis for ABCB1 and SLCO1B1
Gene: SLCO1B1
Variant/haplotype: rs4149015
Drug(s): moxifloxacin
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype AG is associated with increased exposure to moxifloxacin in people with Drug Resistance and Tuberculosis as compared to genotype GG.
Notes: "This study found no association between genotype variations in ABCB1 and SLCO1B1 and the AUC0–24 and Cmax of moxifloxacin. Still, the analysis on SLCO1B1 rs4149015 revealed a trend that patients with the GA genotype exhibited a higher moxifloxacin AUC0–24 and Cmax than those with the GG genotype (Table 4). "
Article: Deciphering the Interleukin 28B Variants That Better Predict Response to Pegylated Interferon-α and Ribavirin Therapy in HCV/HIV-1 Coinfected Patients
Gene: IFNL3
Variant/haplotype: rs11881222
Drug(s): peginterferon alfa-2b, ribavirin
Phenotype category: Efficacy
Significant: yes
Association: Genotype AA is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C and HIV Infections as compared to genotypes AG + GG.
Notes: This genotype is associated with sustained virological response (SVR).
Article: A genome-wide association study of plasma concentrations of warfarin enantiomers and metabolites in sub-Saharan black-African patients
Gene: CYP2C9
Variant/haplotype: rs7900194
Drug(s): warfarin
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele A is associated with decreased metabolism of warfarin in people with Atrial Fibrillation, venous thromboembolism or Heart Valve Diseases as compared to allele G.
Notes: for S-warfarin stereoisomer in particular, measured as increased S-warfarin/R-warfarin ratio and decreased S-7OH-warfarin/S-warfarin and using a Bonferroni-adjusted replication significance threshold p < 3.21 × 10−4. (CYP2C9*8)
Article: Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers
Gene: PEAR1
Variant/haplotype: rs77235035
Drug(s): ticagrelor
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype AA is associated with decreased concentrations of ticagrelor in healthy individuals as compared to genotypes AC + CC.
Notes: this was only significant for AA vs AC, but not AA vs CC. Authors state "A/A carriers than among A/C carriers (P ANOVA < 0.05), but not among C/C carriers; hence, this SNP was excluded from multivariate analysis"
Article: The Effect of CYP2D6 polymorphisms on the Response to Pain Treatment for Pediatric Sickle Cell Pain Crisis
Gene: CYP2D6
Variant/haplotype: CYP2D6*1, CYP2D6*4
Drug(s): codeine
Phenotype category: Efficacy
Significant: yes
Association: CYP2D6 *4 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1.
Notes: Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis.
Article: CBR1 and CBR3 pharmacogenetics and their influence on doxorubicin disposition in Asian breast cancer patients
Gene: CBR1
Variant/haplotype: rs9024
Drug(s): doxorubicin
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype GG is associated with decreased concentrations of doxorubicin in people with Breast Neoplasms as compared to genotype AG.
Article: A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform
Gene: CHST3
Variant/haplotype: rs4148947
Drug(s): docetaxel, thalidomide
Phenotype category: Efficacy
Significant: yes
Association: Allele T is associated with increased response to docetaxel and thalidomide in people with Prostatic Neoplasms as compared to allele C.
Notes: (allele inferred by frequency comparison with dbSNP, actual base not listed in paper, since frequencies are close have low confidence in this allele assignment)
Article: Pharmacogenetic-Based Efavirenz Dose Modification: Suggestions for an African Population and the Different CYP2B6 Genotypes
Gene: CYP2B6
Variant/haplotype: CYP2B6*1, CYP2B6*6
Drug(s): efavirenz
Phenotype category: Metabolism/PK
Significant: not stated
Association: CYP2B6 *1/*6 is associated with increased metabolism of efavirenz in people with HIV as compared to CYP2B6 *6/*6.
Notes: Apparent clearance was 1.74 fold higher for CYP2B6 *1/*6 compared to CYP2B6 *6/*6.
Article: Influence of ABCB1 and ABCG2 polymorphisms on doxorubicin disposition in Asian breast cancer patients
Gene: ABCB1
Variant/haplotype: rs2032582
Drug(s): doxorubicin
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype AA is associated with decreased metabolism of doxorubicin in people with Breast Neoplasms as compared to genotype CC.
Notes: Significance given for the haplotype of ABCB1 c.1236C>T, c.2677G>A/T, and c.3435C>T (rs1128503, rs2032582 and rs1045642) which was associated with increased drug exposure and reduced clearance. Patients harboring the CC-GG-CC genotypes had significantly lower peak plasma concentrations of doxorubicinol compared to patients who had TT-TT-TT genotypes (P = 0.03).
Article: Personalizing initial calcineurin inhibitor dosing by adjusting to donor CYP3A‐status in liver transplant patients
Gene: CYP3A5
Variant/haplotype: rs776746
Drug(s): cyclosporine, tacrolimus
Phenotype category: Dosage, Metabolism/PK
Significant: yes
Association: Genotype CC is associated with increased concentrations of cyclosporine or tacrolimus in people with liver transplantation as compared to genotypes CT + TT.
Notes: The genotype refers to the genotype of the donor liver. Patients who were recipients of a liver transplantation from a donor with the CC genotype AND low or intermediate CYP3A4 mRNA levels had significantly higher plasma concentrations of cyclosporine or tacrolimus as compared to patients who whose liver donors had the rs776746 CC genotype AND high CYP3A4 mRNA levels, or rs776746 CT/TT genotypes regardless of CYP3A4 mRNA levels.
Article: The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response
Gene: LRP1
Variant/haplotype: rs1057451
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 G.
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: Gamma-glutamyl carboxylase and its influence on warfarin dose
Gene: GGCX
Variant/haplotype: rs12714145
Drug(s): warfarin
Phenotype category: Dosage
Significant: no
Association: Allele T is not associated with dose of warfarin as compared to allele C.
Notes: This variant was not a significant predictor of warfarin dose
Article: Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence
Gene: DBH
Variant/haplotype: rs5320
Drug(s): heroin
Phenotype category: Dosage
Significant: no
Association: Allele A is not associated with dose of heroin in people with Heroin Dependence as compared to allele G.
Article: Effects of SCN1A and GABA Receptor Genetic Polymorphisms on Carbamazepine Tolerability and Efficacy in Chinese Patients with Partial Seizures: 2‐Year Longitudinal Clinical Follow‐Up
Gene: SCN1A
Variant/haplotype: rs3812718
Drug(s): carbamazepine
Phenotype category: Efficacy
Significant: yes
Association: Genotypes CC + CT are associated with increased response to carbamazepine in people with Epilepsy as compared to genotype TT.
Notes: Patients with the CC and CT genotypes have increased tolerability to carbamazepine. Tolerability was assessed by retention rates, or the proportion of patients that continued to take carbamazepine for seizures over the preceding 3 months. Patients were assessed every 3 months for 24 months. The retention rates for the CC + CT genotypes were significantly greater than the retention rate for the TT genotype during months 9 - 15 of treatment. Please note alleles have been complemented to the plus chromosomal strand.
Article: A C1173T Dimorphism in the VKORC1 Gene Determines Coumarin Sensitivity and Bleeding Risk
Gene: VKORC1
Variant/haplotype: rs9934438
Drug(s): acenocoumarol, phenprocoumon
Phenotype category: Dosage, Toxicity
Significant: yes
Association: Genotype GG is associated with increased dose of acenocoumarol or phenprocoumon as compared to genotypes AA + AG.
Notes: Patients homozygous for the G allele required significantly higher doses to reach stable anticoagulation as compared to patients carrying the A allele. There was a gene dose effect: GG>AG>AA. It was also seen that patients carrying the A allele were at significantly higher risk of developing bleeding as compared to patients homozygous for the G allele (OR below is for major hemorrhage for carriers of at least one A allele). Patients taking phenprocoumon seemed to be more likely to achieve stability in their dose, but were also more likely to develop bleeding than patients receiving acenocoumarol.
Article: Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer
Gene: ABCB1
Variant/haplotype: rs1128503
Drug(s): everolimus
Phenotype category: Metabolism/PK
Significant: no
Association: Genotypes AA + AG are not associated with concentrations of everolimus in women with Breast Neoplasms as compared to genotype GG.
Notes: Please note: alleles have been complemented to the positive chromosomal strand.
Article: Human Mu Opioid Receptor (OPRM1 A118G) polymorphism is associated with brain mu-opioid receptor binding potential in smokers
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): nicotine
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to nicotine as compared to allele A.
Notes: There was no significant difference in subjective reward from nicotine between the genotype groups.
Article: Independent and interactive effects of OPRM1 and DAT1 polymorphisms on alcohol consumption and subjective responses in social drinkers
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): ethanol
Phenotype category: Toxicity
Significant: yes
Association: Genotypes AG + GG is associated with decreased exposure to ethanol in healthy individuals as compared to genotype AA.
Notes: Subjects carrying the G allele had a significantly decreased odds ratio for reporting more heavy drinking days compared to subjects with the AA genotype. There was no significant association between rs1799971 and number of drinks per drinking day or number of drinking days.
Article: Meta-Analysis on Pharmacogenetics of Platinum-Based Chemotherapy in Non Small Cell Lung Cancer (NSCLC) Patients
Gene: GSTP1
Variant/haplotype: rs1695
Drug(s): Platinum compounds
Phenotype category: Efficacy
Significant: no
Association: Genotype AA is associated with increased response to Platinum compounds in people with Carcinoma, Non-Small-Cell Lung as compared to genotypes AG + GG.
Notes: This association was only significant in the Asian population. When studied together with the Caucasian population significance was lost.
Article: Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy
Gene: ABCB1
Variant/haplotype: rs3213619
Drug(s): imatinib
Phenotype category: Efficacy
Significant: no
Association: Genotype AA is not associated with response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotypes AG + GG.
Notes: This genotype was not significantly with associated with likelihood of achieving complete molecular response (CMR), major cytogenetic response (MCgR) or complete cytogenetic response (CCgR) within 12 months. CMR was classified based on BCR-ABL to control gene transcript ratios, expressed on the International Scale; CMR was a ratio <= 0.0032%. Cytogenetic response was based on bone marrow assessment, where CCgR was 0% Ph+ cells. MCgR was defined as achieving either a complete or partial cytogenetic response (CCgR; PCgR), where PCgR was >0 to 35% Ph+ cells.
Article: The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions
Gene: SCARB1
Variant/haplotype: rs4238001
Drug(s): fenofibrate
Phenotype category: Efficacy
Significant: yes
Association: Genotypes CT + TT are associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.
Notes: Subjects carrying the T allele had a significantly greater decrease in triglyceride levels and a significantly greater increase in high density lipoprotein cholesterol (HDL-C) levels after fenofibrate treatment for 3 weeks, as compared to CC homozygotes. Please note alleles have been complemented to the plus chromosomal strand.
Article: Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence
Gene: SLC6A3
Variant/haplotype: rs27072
Drug(s): methadone
Phenotype category: Dosage
Significant: no
Association: Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.
Article: Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy
Gene: ABCB1
Variant/haplotype: rs4148740
Drug(s): carbamazepine
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype AG is associated with increased metabolism of carbamazepine in people with Epilepsy as compared to genotype AA.
Notes: as measured by a higher carbamazepine-10,11-transdihydrodiol:carbamazepine-10-11 epoxide metabolite ratio. This association was only significant in the African American patients and not in Caucasian patients.
Article: Genetic-based dosing in orthopedic patients beginning warfarin therapy
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*2
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: CYP2C9 *2 is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to CYP2C9 *1.
Notes: *2 was associated with 17.4 %(95% CI 8.3-25.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy.
Article: Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters
Gene: ABCC2
Variant/haplotype: rs2273697
Drug(s): talinolol
Phenotype category: Metabolism/PK
Significant: no
Association: Allele A is not associated with clearance of talinolol in healthy individuals as compared to allele G.
Notes: This was a twin study of monozygotic and dizygotic twins.
Article: Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans
Gene: VKORC1
Variant/haplotype: rs9923231
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC.
Notes: in African American patients.
Article: Association of ABCC2 −24C>T Polymorphism with High-Dose Methotrexate Plasma Concentrations and Toxicities in Childhood Acute Lymphoblastic Leukemia
Gene: ABCC2
Variant/haplotype: rs717620
Drug(s): methotrexate
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele T is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C.
Notes: All patients received four cycles of high dose MTX (5000mg per square meter of body surface area). 1/10th of the dose was administered over 30 minutes (rapid infusion) and the rest was administered continuously over 24hrs. Leucovorin rescue was administered every 6hrs starting 48 hrs after initiation of MTX infusion.
Article: Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial
Gene: SLC6A4
Variant/haplotype: SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)
Drug(s): escitalopram
Phenotype category: Efficacy
Significant: no
Association: SLC6A4 HTTLPR long form (L allele) is not associated with response to escitalopram in people with Depression as compared to SLC6A4 HTTLPR short form (S allele).
Notes: The 5-HTTLPR was not associated with significant differences in response (HAMD) in patients receiving escitalopram.