shlokn/autogkb huggingface dataset:
Article: Effect of the NFIB rs28379954 T>C polymorphism on CYP2D6‐catalyzed metabolism of solanidine
Gene: NFIB
Variant/haplotype: rs28379954
Drug(s): solanidine
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotypes CC + CT is associated with increased metabolism of solanidine as compared to genotype TT.
Notes: "The present study shows that the NFIB C variant is significantly associated with increased CYP2D6 metabolism of solanidine. A significant effect on solanidine metabolism was only seen in CYP2D6 NMs, which is compatible with the findings that the NFIB C variant modulates CYP2D6 gene expression and activity, which cannot occur in CYP2D6 PMs." ""CYP2D6‐genotyped patients, who had performed routine pharmacogenetic testing and therapeutic drug monitoring (TDM) of psychiatric drug,... excluding co‐medicated with the CYP2D6 inhibitors bupropion, fluoxetine, paroxetine, or levomepromazine"
Article: Genetic coding variants in the niacin receptor, hydroxyl-carboxylic acid receptor 2 (HCAR2), and response to niacin therapy
Gene: HCAR2
Variant/haplotype: rs7314976
Drug(s): niacin
Phenotype category: Efficacy
Significant: no
Association: Genotypes AA + AG is not associated with response to niacin as compared to genotype GG.
Notes: The study compared statin + placebo treated patients with statin + extended release niacin treated patients from the from the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL/High Triglycerides and Impact on Global Health Outcomes (AIM-HIGH) trial. No association of this variant (p.M317I) with changes in low-density lipoprotein cholesterol, triglycerides, lipoprotein a or high-density lipoprotein cholesterol at 1 year were found.
Article: Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study
Variant/haplotype: rs7588746
Drug(s): lithium
Phenotype category: Efficacy
Significant: yes
Association: Allele A is associated with decreased response to lithium in people with Bipolar Disorder as compared to allele G.
Article: Neurotrophic Tyrosine Kinase Receptor Type 2 (NTRK2) Gene Associated with Treatment Response to Mood Stabilizers in Patients with Bipolar I Disorder
Gene: NTRK2
Variant/haplotype: rs1565445
Drug(s): lithium, valproic acid
Phenotype category: Efficacy
Significant: no
Association: Genotype AA is not associated with response to lithium or valproic acid in people with Bipolar Disorder as compared to genotypes AG + GG.
Article: Use of Pharmacogenetic and Clinical Factors to Predict the Therapeutic Dose of Warfarin
Gene: VKORC1
Variant/haplotype: rs9923231
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Allele T is associated with decreased dose of warfarin as compared to allele C.
Notes: This variant was associated with a 28% reduction per allele (95% confidence interval 25-30%) in the therapeutic warfarin dose.
Article: Influence of cytochrome P450 and glutathione S transferase polymorphisms on response to nilotinib therapy among chronic myeloidleukemia patients from Pakistan
Gene: CYP1A1
Variant/haplotype: rs1048943
Drug(s): nilotinib
Phenotype category: Efficacy
Significant: yes
Association: Genotypes CT + TT is associated with increased response to nilotinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype CC.
Notes: alleles complimented to plus chromosomal strand. Rs number from PharmVar, effects reported for CYP1A1*2C A>G. Excerpt "wild type CYP1A1, GSTP1 and GSTM1 deletion was significantly frequent in responders. The partial responders carried heterozygous mutant genotypes of CYP1A1"
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/*1 is associated with increased metabolism of efavirenz in people with HIV as compared to CYP2B6 *6/*6.
Notes: Apparent clearance was 2.2 fold higher for CYP2B6 *1/*1 compared to CYP2B6 *6/*6 (p-value is not stated). The reported p-value are for differences in mean AUC between *6/*6 + rs3842 CC versus *1/*1 +rs3842 TT and between *6/*6 + rs3842 CC versus *6/*6 + rs3842 CT.
Article: A functional polymorphism in the ABCB1 transporter predicts pharmacologic response to combination of nortriptyline and morphine in neuropathic pain patients
Gene: CYP2C19
Variant/haplotype: CYP2C19 intermediate metabolizer
Drug(s): morphine, nortriptyline
Phenotype category: Efficacy
Significant: no
Association: CYP2C19 intermediate metabolizer is not associated with response to morphine and nortriptyline in people with Pain as compared to CYP2C19 normal metabolizer.
Notes: No significant difference in improvement in pain scores between metabolizer groups.
Article: Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence
Gene: TH
Variant/haplotype: rs10770141
Drug(s): methadone
Phenotype category: Dosage
Significant: no
Association: Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A.
Article: Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines
Gene: DPYD
Variant/haplotype: rs56038477
Drug(s): capecitabine, fluorouracil
Phenotype category: Dosage
Significant: yes
Association: Genotype CT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC.
Notes: Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. "Dose" here refers to dose modification. Note: the reported parameters for this SNP are really for what the authors refer to as a "DPYD signature" that includes any minor alleles for the following SNPs in DPYD: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T).
Article: Pharmacokinetics and pharmacodynamics following maintenance doses of prasugrel and clopidogrel in Chinese carriers of CYP2C19 variants
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*2, CYP2C19*3
Drug(s): prasugrel
Phenotype category: Metabolism/PK
Significant: no
Association: CYP2C19 *2/*2 + *2/*3 are not associated with metabolism of prasugrel in healthy individuals as compared to CYP2C19 *1/*1.
Notes: CYP2C19 *2/*3 is not associated with area under the plasma concentration-time curve and Cmax when exposed to prasugrel in healthy individuals as compared to CYP2C19 *1/*1. IMs and NMs had similar Pras-AM concentration time profiles, but PMs had lower Pras-AM concentrations than did IMs or NMs (no statistics),difference between PMs and NMs was  13% (90% CI 0%, 25%).; Note: P values were NOT provided in the study. Authors chose to report of confidence interval cut-off of 90%, (not classical cut-off of 95%). One outlier subject was removed from analysis.
Article: Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People
Gene: CYP2C9
Variant/haplotype: CYP2C9 poor metabolizer and intermediate metabolizer genotypes
Drug(s): 4-hydroxytamoxifen
Phenotype category: Metabolism/PK
Significant: no
Association: CYP2C9 poor metabolizer and intermediate metabolizer genotypes are associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms.
Article: Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer
Gene: CYP1A1
Variant/haplotype: CYP1A1*1, CYP1A1*2A
Drug(s): exemestane
Phenotype category: Metabolism/PK
Significant: no
Association: CYP1A1 *1/*2A + *2A/*2A are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to CYP1A1 *1/*1.
Notes: No significant difference in exemestane concentrations were seen between the three genotypes.
Article: DD ACE gene polymorphism is associated with increased coronary artery endothelial dysfunction: the PREFACE trial
Gene: ACE
Variant/haplotype: rs1799752
Drug(s): pravastatin
Phenotype category: Efficacy
Significant: yes
Association: Genotype del/del is associated with response to pravastatin in people with non-hypercholesterolaemic patients scheduled for angioplasty as compared to genotypes ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC + ATACAGTCACTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC/del.
Notes: Described as DD vs II/ID. The DD genotype was associated with significantly deteriorated endothelial function in dilated and normal coronary segments. Pravastatin had a beneficial effect in patients with the DD genotype.
Article: Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response
Gene: ABCB1
Variant/haplotype: rs1045642
Drug(s): methadone
Phenotype category: Metabolism/PK
Significant: no
Association: Allele G is not associated with concentrations of methadone in people with Opioid-Related Disorders as compared to allele A.
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. Variant referred to as C3435T. Please note that alleles have been complemented to the positive strand.
Article: The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder
Gene: HTR2A
Variant/haplotype: rs6313
Drug(s): sertraline
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with response to sertraline in people with Panic Disorder as compared to allele G.
Notes: rs6313 was not associated with significant differences in response (PDSS) in patients receiving sertraline.
Article: A candidate gene investigation of methylphenidate response in adult attention-deficit/hyperactivity disorder patients: results from a naturalistic study
Gene: ADRA2A
Variant/haplotype: rs1800544
Drug(s): methylphenidate
Phenotype category: Efficacy
Significant: no
Association: Allele G is associated with decreased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity as compared to allele C.
Notes: This SNP was significant in initial analysis, but not affirmed in meta-analysis or after correction for multiple testing. This study was conducted in adult patients with ADHD, with treatment success measured by questionnaires filled out by treating physicians.  This SNP was the only one of 20 found to be significant in any stage of analysis.
Article: The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response
Variant/haplotype: rs1466882
Drug(s): Selective serotonin reuptake inhibitors
Phenotype category: Efficacy
Significant: no
Association: Allele C is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele A.
Notes: The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: ‘% change in HRSD-17 score’ (% HRSD defined as the change in HRSD-17 score divided by the baseline score) and ‘response’ (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).
Article: Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study
Gene: APOA1
Variant/haplotype: rs670
Drug(s): fenofibrate
Phenotype category: Efficacy
Significant: no
Association: Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC.
Notes: No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand.
Article: Genome-Wide Analysis of Clopidogrel Active Metabolite Levels Identifies Novel Variants that Influence Antiplatelet Response
Gene: RAD18
Variant/haplotype: rs187941554
Drug(s): clopidogrel thiol metabolite H4
Phenotype category: Metabolism/PK
Significant: no
Association: Allele A is associated with concentrations of clopidogrel thiol metabolite H4 in healthy individuals as compared to allele G.
Notes: In this GWAS, the variant was significantly associated with active metabolite concentration but the association did not remain after adjusting for CYP2C19*2 SNV and correction for multiple testing.
Article: Calcium‐channel blockers: Clinical outcome associations with reported pharmacogenetics variants in 32 000 patients
Gene: CYP3A5
Variant/haplotype: rs776746
Drug(s): Dihydropyridine derivatives
Phenotype category: Other
Significant: yes
Association: Genotype TT is associated with increased discontinuation of Dihydropyridine derivatives as compared to genotype CC.
Article: Genetic Variants Influencing Plasma Renin Activity in Hypertensive Patients from the Pharmacogenomic Evaluation of Antihypertensive Responses (PEAR) Study
Variant/haplotype: rs7184292
Drug(s): atenolol
Phenotype category: Efficacy
Significant: yes
Association: Allele A is associated with increased response to atenolol in people with Hypertension as compared to allele G.
Notes: The A allele was associated with an increased systolic blood pressure response to atenolol.
Article: Pharmacokinetics and effect on caffeine metabolism of the proton pump inhibitors, omeprazole, lansoprazole, and pantoprazole
Gene: CYP2C19
Variant/haplotype: CYP2C19 poor metabolizers
Drug(s): lansoprazole, omeprazole, pantoprazole
Phenotype category: Metabolism/PK
Significant: not stated
Association: CYP2C19 poor metabolizer is associated with decreased metabolism of lansoprazole, omeprazole or pantoprazole in healthy individuals as compared to CYP2C19 normal metabolizer.
Notes: 12 extensive metabolizers and 2 poor metabolizers. Poor metabolizers receiving omeprazole had a mean AUC 5.4X higher, and a mean t1/2 2.5X longer, as compared to extensive metabolizers. For lansoprazole, these values were 5.9X and 3.5X. For pantoprazole, they were 6.5X and 5X.
Article: PHARMACOGENETIC EFFECTS OF NALTREXONE IN INDIVIDUALS OF EAST ASIAN DESCENT: HUMAN LABORATORY FINDINGS FROM A RANDOMIZED TRIAL
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): ethanol
Phenotype category: Other
Significant: yes
Association: Genotypes AG + GG are associated with decreased dose of ethanol as compared to genotype AA.
Notes: Subjects carrying the G allele consumed significantly fewer drinks in an alcohol self-administration session than subjects with the AA genotype.
Article: Influence of APOA5 Locus on the Treatment Efficacy of Three Statins: Evidence From a Randomized Pilot Study in Chinese Subjects
Gene: APOA5
Variant/haplotype: rs662799
Drug(s): rosuvastatin
Phenotype category: Efficacy
Significant: yes
Association: Genotype AA is associated with increased response to rosuvastatin in people with Dyslipidaemia as compared to genotypes AG + GG.
Notes: Subjects were randomized to receive one of three dose-adjusted statins (N = 65 rosuvastatin, N= 65 atorvastatin, N= 65 simvastatin) and cholesterol (HDL, LDL), triglycerides and free-fatty acids (FFA) were compared between groups before and after statin treatment. Please note: alleles have been complemented to the + chromosomal strand.
Article: Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data
Gene: VKORC1
Variant/haplotype: rs9923231
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Allele T is associated with decreased dose of warfarin.
Article: Association of Common C-Reactive Protein (CRP) Gene Polymorphisms With Baseline Plasma CRP Levels and Fenofibrate Response
Gene: CRP
Variant/haplotype: rs3091244
Drug(s): fenofibrate
Phenotype category: Efficacy
Significant: yes
Association: Genotypes AG + GG are associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT.
Notes: Patients with the GG, GA and GT genotypes had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to those with the AA and AT genotypes. In strong linkage disequilibrium with rs1205 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and rs3093059 (r2 = 0.935, p < 0.001).
Article: Plasma concentrations of venetoclax and Pharmacogenetics correlated with drug efficacy in treatment naive leukemia patients: a retrospective study
Gene: CYP3A5
Variant/haplotype: rs776746
Drug(s): venetoclax
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype CC is associated with increased dose-adjusted trough concentrations of venetoclax in people with Leukemia, Myeloid, Acute as compared to genotypes CT + TT.
Notes: Alleles complemented. "The GG genotypes of CYP3A5 rs776746 revealed higher C0/D and C6/D than the AA + AG genotype in patients treated with VA regimen (Fig. 3A, B), with statistically significant differences (p = 0.019 and p = 0.032)." However this was not significantly associated with response even though concentration was itself associated with response.
Article: Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients
Gene: UMPS
Variant/haplotype: rs3772809
Drug(s): capecitabine, fluorouracil
Phenotype category: Efficacy
Significant: no
Association: Allele G is associated with decreased response to capecitabine and fluorouracil in people with Neoplasm Metastasis as compared to allele A.
Notes: pfSNP identified 2800 SNPS associated with key-words: 5-FU, capecitabine and oxilaplatin and colorectal cancer. Various criteria were used to determine 1536 SNPs to genotype. These SNPs were genotyped in a discovery cohort (N=62) and tested in a validation cohort (N=27). Both cohorts consisted of patients with colorectal cancer metastasis in liver. 36 SNPs were initially significantly associated with drug response but only 3 remained significant in the validation cohort (before Bonferroni correction): rs2291078 A, rs3772809 G, rs3772810 G. All three SNPs were in perfect LD, and were initially associated with the non-responder phenotype, but the association did not remain significant after Bonferroni correction.
Article: Nuclear receptor gene polymorphisms and warfarin dose requirements in the Quebec Warfarin Cohort
Gene: CYP2C9
Variant/haplotype: CYP2C9 normal metabolizers
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: CYP2C9 normal metabolizer is associated with increased dose of warfarin as compared to CYP2C9 intermediate metabolizer and poor metabolizer.
Notes: Mean dose (in mg) of warfarin according to metabolizer phenotype was: EM>IM>PM. Metabolizer phenotype was based on presence of CYP2C9*2 and *3. Warfarin dose requirement was defined as the reported daily dose at 3 months following treatment initiation.
Article: Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery
Gene: UGT2B7
Variant/haplotype: rs4587017
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 T.
Notes: There was no significant difference in 24 hour fentanyl use between the genotype groups.
Article: Genetic Variation of the Mu Opioid Receptor (OPRM1) and Dopamine D2 Receptor (DRD2) is Related to Smoking Differences in Patients with Schizophrenia but not Bipolar Disorder
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): nicotine
Phenotype category: Other
Significant: yes
Association: Genotypes AG + GG are associated with increased exposure to nicotine in people with Schizophrenia as compared to genotype AA.
Notes: Subgroup analysis of schizophrenia patients only found that those carrying the G allele smoked more cigarettes per day than those with the AA genotype.
Article: Genome-Wide Pharmacogenomic Study of Neurocognition As an Indicator of Antipsychotic Treatment Response in Schizophrenia
Gene: IL1A
Variant/haplotype: rs11677416
Drug(s): olanzapine
Phenotype category: Dosage, Efficacy
Significant: yes
Association: Allele C is associated with increased response to olanzapine in people with Schizophrenia as compared to allele T.
Notes: Adjacent SNPs also showed evidence for association.  Associated allele is reported as the minor allele being associated with greater response.  dbSNP shows C to be the minor allele in all populations reported upon.   GWAS p = 6.6 x 10 (-7) for 492K SNPs, so Bonferroni-corrected p is 0.32 .
Article: Effect of ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation: patient-reported outcomes in the STRIVE randomized, controlled trial
Gene: CFTR
Variant/haplotype: rs75527207
Drug(s): ivacaftor
Phenotype category: Efficacy
Significant: yes
Association: Allele A is associated with response to ivacaftor in people with Cystic Fibrosis.
Notes: G551D allele. Analysis of CFQ-R scores from participants in the STRIVE trial. Scores for eating problems, health perceptions, physical functioning, respiratory symptoms, social functioning, treatment burden and vitality showed significant improvements following ivacaftor treatment.
Article: Genome-wide association study of patient and clinician rated global impression severity during antipsychotic treatment
Gene: TJP1
Variant/haplotype: rs785423
Drug(s): risperidone
Phenotype category: Efficacy
Significant: yes
Association: Allele A is associated with increased response to risperidone in people with Schizophrenia as compared to allele G.
Notes: The number of A alleles present in a patient was negatively associated with PGI score. Please note that this variant is in high linkage disequilibrium with rs711355 and rs813676.
Article: Genotypic variation in the SV2C gene impacts response to atypical antipsychotics the CATIE Study
Gene: SV2C
Variant/haplotype: rs2270927
Drug(s): olanzapine
Phenotype category: Efficacy
Significant: no
Association: Genotype CC is not associated with response to olanzapine in people with Schizophrenia as compared to genotypes CG + GG.
Notes: Not significant after correction for multiple testing using the False Discovery Rate. Response was assessed by change in the total Positive and Negative Syndrome Scale (PANSS) score.
Article: The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients
Gene: CYP3A5
Variant/haplotype: rs776746
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype CC is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to genotypes CT + TT.
Notes: A single steady-state concentration of tacrolimus was collected for each patient 2-7 wks post-transplant and compared to dose of tacrolimus administered to patients at Oslo University Hospital. Reported concentrations are "steady-state dose-adjusted concentration" of tacrolimus. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.
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: yes
Association: Allele G is associated with decreased response to salbutamol in people with Asthma as compared to allele A.