shlokn/autogkb huggingface dataset:
Article: Effects of OPRM1 and ABCB1 gene polymorphisms on the analgesic effect and dose of sufentanil after thoracoscopic-assisted radical resection of lung cancer
Gene: ABCB1
Variant/haplotype: rs1045642
Drug(s): sufentanil
Phenotype category: Dosage
Significant: no
Association: Allele A is not associated with dose of sufentanil in people with Lung Neoplasms and Pain, Postoperative as compared to allele G.
Notes: No significant association between this variant and consumption of sufentanil. Please note that alleles have been complemented to the positive strand.
Article: Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration
Variant/haplotype: rs13002976
Drug(s): bevacizumab, ranibizumab
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to bevacizumab and ranibizumab in people with as compared to allele A.
Notes: The authors performed GWAS in a discovery cohort, and did a replication analysis.
Article: ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence
Gene: ABCB1
Variant/haplotype: rs2235067
Drug(s): methadone
Phenotype category: Dosage
Significant: no
Association: Allele C is not associated with dose of methadone in people with Heroin Dependence as compared to allele T.
Notes: Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.
Article: Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis
Gene: TRAF3IP2
Variant/haplotype: rs33980500
Drug(s): adalimumab
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to allele C.
Notes: At six months after beginning treatment, a significant association between rs33980500 and decreased response to TNF inhibitors (i.e. etanercapt and adalimumab) in terms of the number of patients in remission (p=0.02, OR=0.09, C.I.=0.01-0.70) or with low disease activity (p=0.013, OR=0.1, C.I.=0.02-0.87) was seen across the whole cohort, but was not seen at two years after beginning treatment and could not be replicated in the subgroups for each individual drug.
Article: Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer
Gene: SLC29A1
Variant/haplotype: rs760370
Drug(s): gemcitabine
Phenotype category: Efficacy, Toxicity
Significant: no
Association: Genotype GG is associated with decreased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AA + AG.
Notes: Patients with the GG genotype has worse tumor response to treatment with gemcitabine than patients with the AG or AA genotypes. However, progression free survival and risk of neutropenia development did not significantly differ between genotype groups. There were four SNPs in this study that, when taken together, affected progression free survival: rs183484, rs2072671, rs760370, and rs9937. Using patients with 0 or 1 variant as reference, patients with 2 variants had an increased HR of 1.79 (P = 0.004) and patients with 3-4 variants has an increased HR of 3.25 (P < 0.001). There were also two SNPs in this study that, when taken together, affected tumor response to therapy: rs2072671 and rs760370. Using patients with 0 variants as reference, patients with 1-2 variants had an increased OR of 3.40 (P = 0.004).
Article: Oxidative Stress-Related Genetic Polymorphisms Are Associated with the Prognosis of Metastatic Gastric Cancer Patients Treated with Epirubicin, Oxaliplatin and 5-Fluorouracil Combination Chemotherapy
Gene: SOD2
Variant/haplotype: rs4880
Drug(s): epirubicin, fluorouracil, oxaliplatin
Phenotype category: Efficacy
Significant: not stated
Association: Allele G is not associated with response to epirubicin, fluorouracil and oxaliplatin in people with Neoplasm Metastasis and Stomach Neoplasms.
Notes: Please note: alleles have been complemented to the + chromosomal strand.
Article: Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers
Gene: GSTP1
Variant/haplotype: rs1695
Drug(s): fluorouracil, leucovorin, oxaliplatin
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to allele A.
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: Other
Significant: no
Association: Allele G is not associated with response to ethanol in healthy individuals as compared to allele A.
Notes: No significant independent effects of OPRM1 genotype on subjective measures of alcohol response (SHAS, DEQ VAS, BAES or POMS).
Article: Association between single nucleotide polymorphisms in the mu opioid receptor gene (OPRM1) and self-reported responses to alcohol in American Indians
Gene: OPRM1
Variant/haplotype: rs3778148
Drug(s): ethanol
Phenotype category: Efficacy
Significant: yes
Association: Allele T is associated with increased response to ethanol as compared to allele G.
Notes: The T allele was associated with increased scores in the dizzy, drunk, high, nausea, talkative and uncomfortable traits as well as increased total score on the Subjective High Assessment Scale-Expectations (SHAS-E) questionnaire.
Article: Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders
Gene: DRD3
Variant/haplotype: rs6280
Drug(s): methylphenidate
Phenotype category: Efficacy
Significant: yes
Association: Genotype TT is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotypes CC + CT.
Notes: Positive response defined as Clinical Global Impression-Improvement (CGI-I) rating of 'much improved' or 'very much improved', and decrease in Aberrant Behavior Checklist-Hyperactivity subscale of >25% from baseline. This result was not significant when considering correction for multiple testing (p<0.002).
Article: Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic Colorectal Cancer Patients
Gene: VDR
Variant/haplotype: rs12717991
Drug(s): irinotecan
Phenotype category: Metabolism/PK
Significant: no
Association: Allele T is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C.
Article: Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort
Gene: GATA4
Variant/haplotype: rs4841588
Drug(s): warfarin
Phenotype category: Dosage
Significant: no
Association: Allele G is not associated with dose of warfarin as compared to allele T.
Notes: Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.
Article: Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance
Variant/haplotype: rs2527927
Drug(s): olanzapine
Phenotype category: Metabolism/PK
Significant: no
Association: Allele A is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele G.
Article: Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes
Gene: SLCO1B1
Variant/haplotype: rs4149056
Drug(s): pravastatin
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype CT is associated with increased metabolism of pravastatin in children with Transplantation as compared to genotype TT.
Notes: Patients with the CT genotype had significantly lower plasma Cmax, AUC and drug half-life. This variant was described as 521T>C.
Article: Theory‐based pharmacokinetics and pharmacodynamics of S‐ and R‐warfarin and effects on international normalized ratio: influence of body size, composition and genotype in cardiac surgery patients
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*3
Drug(s): warfarin
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2C9 *1/*3 is associated with clearance of warfarin in people with Heart Diseases as compared to CYP2C9 *1/*1.
Notes: The *1/*3 diplotype was associated with increased clearance of R-warfarin but decreased clearance of S-warfarin.
Article: Genotype-guided versus traditional clinical dosing of warfarin in patients of Asian ancestry: a randomized controlled trial
Gene: CYP2C9
Variant/haplotype: CYP2C9*3
Drug(s): warfarin
Phenotype category: Dosage
Significant: not stated
Association: CYP2C9 *3 is associated with dose of warfarin in people with Atrial Fibrillation, Pulmonary Embolism, Stroke and Venous Thrombosis.
Notes: used in a study comparing genotype-guided dosing vs conventional for warfarin initiation.
Article: OPRM1, OPRK1 and COMT Genetic Polymorphisms Associated with Opioid Effects on Experimental Pain: A Randomized, Double-Blind, Placebo-Controlled Study
Gene: COMT
Variant/haplotype: rs4633
Drug(s): butorphanol
Phenotype category: Efficacy
Significant: yes
Association: Genotype CC is associated with decreased response to butorphanol in healthy individuals as compared to genotypes CT + TT.
Notes: Significant difference in pressure pain at the ulna between genotype groups, but this association was not seen in other pain modalities. Study-wide significance was set to p<0.017.
Article: Implications of OPRM1 and CYP2B6 variants on treatment outcomes in methadone-maintained patients in Ontario: Exploring sex differences
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): methadone
Phenotype category: Dosage
Significant: no
Association: Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele A.
Article: Association between rs1799971 in the mu opioid receptor gene and methadone maintenance treatment response
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): methadone
Phenotype category: Dosage
Significant: no
Association: Allele A is not associated with increased dose of methadone in people with Heroin Dependence as compared to allele G.
Notes: not significant in any model (recessive/dominant/additive/allelic) in primary study nor in meta-analysis.
Article: Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients
Gene: SCN1A
Variant/haplotype: rs2298771
Drug(s): carbamazepine
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype TT is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CC + CT.
Notes: The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups. Please note: alleles have been complemented to the + chromosomal strand.
Article: Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia
Gene: ABCG2
Variant/haplotype: rs2231142
Drug(s): methotrexate
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype GT is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.
Notes: Please note that alleles have been complemented to the positive strand. Patients with the TT genotype did not have significantly different methotrexate plasma levels compared to those with the GG genotype.
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: rs11615
Drug(s): Platinum compounds
Phenotype category: Efficacy
Significant: yes
Association: Genotypes AG + GG is associated with increased clinical benefit to Platinum compounds in people with Ovarian Neoplasms, Esophageal Neoplasms or Neoplasms as compared to genotype AA.
Notes: Alleles complemented. Authors perform meta-analysis using several models looking at response and OS and subgroup analysis by cancer type.
Article: NEUROIMAGING FINDINGS FROM AN EXPERIMENTAL PHARMACOLOGY TRIAL OF NALTREXONE IN HEAVY DRINKERS OF EAST ASIAN DESCENT
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): naltrexone
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to naltrexone in people with Alcoholism as compared to allele A.
Notes: No significant genotype x medication interaction on alcohol taste cues.
Article: A Prospective, Randomized Pilot Trial of Model-Based Warfarin Dose Initiation using CYP2C9 Genotype and Clinical Data
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*3
Drug(s): warfarin
Phenotype category: Dosage
Significant: no
Association: CYP2C9 *3 is associated with decreased dose of warfarin as compared to CYP2C9 *1.
Notes: This was a pilot study to compare traditional and PGx-guided dosing.
Article: TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population
Gene: TAOK3
Variant/haplotype: rs795484
Drug(s): morphine
Phenotype category: Dosage, Efficacy
Significant: yes
Association: Genotype TT is associated with increased dose of morphine in children with Pain, Postoperative as compared to genotypes CC + CT.
Notes: Association described as 'nominally significant' in the paper and was only seen in European Caucasian patients. Please note that alleles have been complemented to the positive strand.
Article: Childhood asthma exacerbations and the Arg-16 beta2 receptor polymorphism: a meta-analysis stratified by treatment
Gene: ADRB2
Variant/haplotype: rs1042713
Drug(s): selective beta-2-adrenoreceptor agonists
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with response to selective beta-2-adrenoreceptor agonists in children with Asthma as compared to genotype GG.
Article: Individualized Angiotensin‐Converting Enzyme (ACE)‐Inhibitor Therapy in Stable Coronary Artery Disease Based on Clinical and Pharmacogenetic Determinants: The PERindopril GENEtic (PERGENE) Risk Model
Gene: AGTR1
Variant/haplotype: rs275651
Drug(s): perindopril
Phenotype category: Efficacy
Significant: yes
Association: Genotypes AA + AT is associated with decreased response to perindopril in people with Coronary Artery Disease as compared to genotype TT.
Notes: Three SNPS are combined for a risk score ranging between 0 and 6: rs275651, rs5182, and rs12050217. Patients with risk scores of 0 and 1 and treated with perindopril had absolute risk reductions of 7.50% (95% CI: 3.69-11.73) and 4.30% (95% CI: 2.00-6.53), respectively. Nonsignificant estimated absolute risk increase of 1.32% was observed in patients with a PGXscore >=3. Lower risk score had better response to treatment by primary endpoint of cardiovascular mortality, nonfatal MI, and resuscitated cardiac arrest. Part of PERGENE trial for cardiovascular outcomes.
Article: Genetic variants in the KIF6 region and coronary event reduction from statin therapy
Gene: KIF6
Variant/haplotype: rs20455
Drug(s): atorvastatin, pravastatin
Phenotype category: Efficacy
Significant: yes
Association: Genotypes AG + GG are associated with increased response to atorvastatin or pravastatin as compared to genotype AA.
Article: A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): morphine, nortriptyline
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to morphine and nortriptyline in people with Pain as compared to allele A.
Notes: No significant difference in improvement in pain scores between genotype groups.
Article: Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study
Gene: CYP2C9
Variant/haplotype: rs1057910
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Allele C is associated with decreased dose of warfarin as compared to allele A.
Article: Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia
Gene: MTHFR
Variant/haplotype: rs1801131
Drug(s): methotrexate
Phenotype category: Metabolism/PK
Significant: no
Association: Allele G is not associated with concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.
Notes: Please note that alleles have been complemented to the positive strand.
Article: Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy
Gene: UGT2B7
Variant/haplotype: rs28365063
Drug(s): carbamazepine
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype AA is associated with decreased clearance of carbamazepine in people with Epilepsy as compared to genotypes AG + GG.
Notes: This association was only significant in the African American patients and not in Caucasian patients.
Article: The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool
Gene: SLC22A12
Variant/haplotype: rs3825018
Drug(s): allopurinol
Phenotype category: Dosage
Significant: no
Association: Allele G is not associated with dose of allopurinol in people with Gout as compared to allele A.
Article: The role of CYP3A5 polymorphism and dose adjustments following conversion of twice-daily to once-daily tacrolimus in renal transplant recipients
Gene: CYP3A5
Variant/haplotype: CYP3A5*1, CYP3A5*3
Drug(s): tacrolimus
Phenotype category: Dosage
Significant: yes
Association: CYP3A5 *1/*1 + *1/*3 is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3/*3.
Notes: Patients converting from tacrolimus 2X daily (BID) to tacrolimus 1X daily (OD). Pre- and post-conversion, those with the *1/*3 genotype had significantly higher dose requirements as compared to those with the *3/*3 genotype.
Article: Variability of the drug response to nonsteroidal anti-inflammatory drugs according to cyclooxygenase-2 genetic polymorphism
Gene: PTGS2
Variant/haplotype: rs689466
Drug(s): celecoxib
Phenotype category: Efficacy
Significant: yes
Association: Genotype CC is associated with increased response to celecoxib in healthy individuals as compared to genotypes CT + TT.
Notes: in terms of COX-2 inhibition. COX-2 activity was estimated by measuring the blood PGE2 level. The area under the effect curve (AUEC) of the rs689466 GG genotype was significantly lower than that for the AA or AG genotype.
Article: Population pharmacokinetics of unbound mycophenolic acid in adult allogeneic haematopoietic cell transplantation: effect of pharmacogenetic factors
Gene: UGT1A10
Variant/haplotype: rs10187694
Drug(s): mycophenolic acid
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype GG is not associated with metabolism of mycophenolic acid as compared to genotype AA.
Notes: Genotype GG is not associated with any pharmacokinetic parameters measured in the study when exposed to mycophenolic acid as compared to genotype AA.
Article: Effect of CYP3 A4, CYP3 A5 and ABCB1 gene polymorphisms on the clinical efficacy of tacrolimus in the treatment of nephrotic syndrome
Gene: CYP3A5
Variant/haplotype: CYP3A5*1, CYP3A5*3
Drug(s): tacrolimus
Phenotype category: Efficacy
Significant: no
Association: CYP3A5 *3 is not associated with response to tacrolimus in people with Nephrotic Syndrome as compared to CYP3A5 *1.
Notes: This variant did not affect the clinical efficacy of tacrolimus. Effective response included patients with complete or partial remission, and ineffective response included patients with no remission or recurrence.
Article: Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance
Variant/haplotype: rs6960542
Drug(s): olanzapine
Phenotype category: Metabolism/PK
Significant: no
Association: Allele C is not associated with clearance of olanzapine in people with Schizophrenia as compared to allele T.
Article: β2-Adrenergic Receptor Gene Affects the Heart Rate Response of β-Blockers: Evidence From 3 Clinical Studies
Gene: GNB3
Variant/haplotype: rs5443
Drug(s): atenolol, metoprolol
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to atenolol or metoprolol in people with Tachycardia as compared to allele C.
Notes: No significant association between this variant and response to atenolol or metoprolol, as measured by changes in heart rate, in black or white patients.
Article: Genetic Determinants of Response to Warfarin during Initial Anticoagulation
Gene: VKORC1
Variant/haplotype: rs9934438
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Genotype AA is associated with decreased dose of warfarin as compared to genotype GG.
Notes: With *1/*2 (AG) requiring intermediate dose. This was most marked at day 28 to end of follow-up with average doses of 3.66mg/day for *2*2 (HaplotypeA/HaplotypeA"), 4.45mg/day for HaplotypeA/nonA and 5.68mg/day for nonA/nonA. Authors also used rs9923231, rs2884737, rs8050894, and rs2359612 to define HaplotypeA.
Article: Influence of Methylenetetrahydrofolate Reductase C677T, A1298C, and G80A Polymorphisms on the Survival of Pediatric Patients with Acute Lymphoblastic Leukemia
Gene: SLC19A1
Variant/haplotype: rs1051266
Drug(s): methotrexate
Phenotype category: Metabolism/PK
Significant: not stated
Association: Genotype TT is associated with decreased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT.
Notes: Association only seen at the 24 hour timepoint and not at 48 hours. Variant referred to in the paper as G80A. Please note that alleles have been complemented to the positive strand.
Article: Pharmacokinetics and response to pravastatin in paediatric patients with familial hypercholesterolaemia and in paediatric cardiac transplant recipients in relation to polymorphisms of the SLCO1B1 and ABCB1 genes
Gene: SLCO1B1
Variant/haplotype: rs4149056
Drug(s): pravastatin
Phenotype category: Efficacy
Significant: yes
Association: Genotype CT is associated with increased response to pravastatin in children with Transplantation as compared to genotype TT.
Notes: Patients with the CT genotype had greater increases in HDL cholesterol but smaller decreases in total cholesterol and LDL cholesterol. This variant was described as 521T>C.
Article: Race influences warfarin dose changes associated with genetic factors
Gene: CYP4F2
Variant/haplotype: rs2108622
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: only in European Americans, but not African Americans. The dose increase per variant allele was higher among European Americans (5.89% vs 1.23%) compared with African Americans.