shlokn/autogkb huggingface dataset:
Article: Influence of genetic co-factors on the population pharmacokinetic model for clopidogrel and its active thiol metabolite
Gene: ABCB1
Variant/haplotype: rs1045642
Drug(s): clopidogrel, clopidogrel thiol metabolite H4
Phenotype category: Metabolism/PK
Significant: no
Association: Allele A is not associated with exposure to clopidogrel or clopidogrel thiol metabolite H4 as compared to allele G.
Notes: Full pharmacokinetic profile was obtained from 17 subjects at  0.5, 1, 2, 3, and 4 h post clopidogrel dose. From 46 subjects samples were collected at 0.5 and 2 h or 1 and 3 h post-dose. Subjects were receiving PCI or elective coronarography.
Article: Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate
Gene: GSTZ1, POMT2
Variant/haplotype: rs7972
Drug(s): dichloroacetic acid
Phenotype category: Toxicity, Metabolism/PK
Significant: no
Association: Allele G is associated with decreased clearance of dichloroacetic acid in children with Mitochondrial Diseases.
Notes: The statement above is meant for a haplotype rather than for the allele. For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the slowest clearance and the highest urinary excretion of unmetabolized C(13)-DCA was observed for a subject homozygous for G for rs7975,G for rs7972, T for rs1046428.
Article: Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation
Gene: ACE
Variant/haplotype: rs1799752
Drug(s): tacrolimus
Phenotype category: Dosage
Significant: no
Association: Genotype del/del is not associated with concentrations of tacrolimus in children with liver transplantation.
Notes: All liver transplant recipients were given tacrolimus 2-3 days post liver transplantation. Weight adjusted dose and concentration to dose ratio (C/D) were the primary outcomes. Dose and C/D were calculated based on measurements taken on day 3, 7 and 14 post-transplantation as well as the the 1st, 3rd, 6th and 12th month post-transplantation. ACE genotype was not significantly associated with C/D of tacrolimus at any time point.
Article: Impact of the CYP2C8 *3 polymorphism on the drug–drug interaction between gemfibrozil and pioglitazone
Gene: CYP2C8
Variant/haplotype: CYP2C8*1, CYP2C8*3
Drug(s): pioglitazone
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2C8 *1/*1 is associated with decreased clearance of pioglitazone in healthy individuals as compared to CYP2C8 *1/*3 + *3/*3.
Article: Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders
Gene: DRD4
Variant/haplotype: rs11246226
Drug(s): methylphenidate
Phenotype category: Efficacy
Significant: yes
Association: Genotype AA is associated with increased response to methylphenidate in children with Autism Spectrum Disorder as compared to genotypes AC + CC.
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: A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression
Gene: HTR7
Variant/haplotype: rs7905446
Drug(s): antidepressants
Phenotype category: Efficacy
Significant: yes
Association: Genotype TT is associated with decreased response to antidepressants in people with Depression as compared to genotypes GG + GT.
Notes: The TT genotype was associated with non-remission, white the GG and GT genotypes were associated with treatment remission at 6 weeks.
Article: Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence
Gene: TH
Variant/haplotype: rs6356
Drug(s): heroin
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to heroin as compared to allele C.
Notes: No significant association between this variant and strength of euphoria on first heroin use.
Article: Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741
Gene: ABCG2
Variant/haplotype: rs2231142
Drug(s): fluorouracil, irinotecan, oxaliplatin
Phenotype category: Efficacy
Significant: no
Association: Genotype GG is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to genotypes GT + 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: The Influence of CYP2C19 Polymorphism on Eradication of Helicobacter pylori: A Prospective Randomized Study of Lansoprazole and Rabeprazole
Gene: CYP2C19
Variant/haplotype: CYP2C19*1
Drug(s): lansoprazole
Phenotype category: Efficacy
Significant: no
Association: CYP2C19 *1/*1 is not associated with response to lansoprazole in people with Helicobacter Infections.
Notes: as compared to the *1/*2 or *1/*3 genotype, or the *2/*2, *2/*3 or *3/*3 genotype. No significant differences in percent eradication rate of Helicobacter pylori (H. pylori) were seen between any of the genotype groups. Patients were also given amoxicillin and clarithromycin, and were treated for 1 week. Please note these genotypes were referred to by their previous designations of m1 (*2) and m2 (*3).
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: no
Association: Genotype CT is not associated with increased metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype TT.
Notes: No significant association was found with this SNP, though there was a trend for lower plasma concentrations in patients with the CT genotype. This variant was described as 521T>C.
Article: Response to the dipeptidyl peptidase-4 inhibitors in Japanese patients with type 2 diabetes might be associated with a diplotype of two single nucleotide polymorphisms on the interleukin-6 promoter region under a certain level of physical activity
Variant/haplotype: rs2097677
Drug(s): alogliptin, linagliptin, sitagliptin, teneligliptin, vildagliptin
Phenotype category: Efficacy
Significant: no
Association: Allele A is associated with increased response to alogliptin, linagliptin, sitagliptin, teneligliptin or vildagliptin in people with Diabetes Mellitus, Type 2 as compared to allele G.
Notes: "The result showed that the diplotype rs1800796 G/*–rs2097677 A/* had a lower risk for being non-responders than C/C-G/G in the moderate/high group (adjusted odds ratio 0.153, 95% CI 0.044–0.535, P = 0.003), but not in the low group (Table6)."
Article: »Treatment Resistance« Enigma Resolved by Pharmacogenomics - A Case Study of Clozapine Therapy in Schizophrenia
Gene: CYP1A2
Variant/haplotype: rs762551
Drug(s): clozapine
Phenotype category: Dosage
Significant: no
Association: Genotype AA is associated with increased dose of clozapine in women with Schizophrenia.
Notes: Case study: CYP1A2 *1F/*1F is associated with increased dose of clozapine in women with Schizophrenia. At does of 300mg/day with no other medication and under supervised compliance for 2 weeks the patient did not have therapeutic serum drug levels (therapeutic threshold: 0.03 mg/L) and dose was raised to 450 mg/day after which serum clozapine levels rose to 0.49 mg/l and PANSS decreased i.e.. response achieved. She was also genotyped for CYP2D6 and was *1/*4. Annotation done on rs762551 (-163C>A). PharmVar released an updated CYP1A2 nomenclature 12/2024. At this point, -163 C>A was included in 26 core alleles with *30 being the SNP by itself. The 25 other core alleles include the -163 C>A SNP in addition to amino acid changes.
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): endoxifen
Phenotype category: Metabolism/PK
Significant: no
Association: CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms.
Article: Effect of pharmacogenetics on plasma lumefantrine pharmacokinetics and malaria treatment outcome in pregnant women
Gene: CYP2B6
Variant/haplotype: rs3745274
Drug(s): lumefantrine
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to lumefantrine in women with Malaria and Pregnancy as compared to allele G.
Article: Development and Comparison of Warfarin Dosing Algorithms in Stroke Patients
Gene: VKORC1
Variant/haplotype: rs9934438
Drug(s): warfarin
Phenotype category: Dosage
Significant: not stated
Association: Genotypes AG + GG are associated with increased dose of warfarin in people with Stroke as compared to genotype AA.
Notes: Warfarin dose was 6 mg/day in the one patient with the GG genotype, and 4.6+/-1.9 mg/day in the 17 patients with the AG genotype, as compared to 3.6+/-1.2 in patients with the AA genotype. Additionally, this study undertook the development of a warfarin pharmacogenetic dosing algorithm and then compared it against other dosing algorithms. This variant was included in the algorithm. Please note that alleles have been complemented to the plus chromosomal strand.
Article: Genomewide Association Study Identifies Novel Genetic Loci That Modify Antiplatelet Effects and Pharmacokinetics of Clopidogrel
Gene: N6AMT1
Variant/haplotype: rs2254638
Drug(s): clopidogrel
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele G is associated with decreased metabolism of clopidogrel as compared to genotype AA.
Notes: This variant was associated with decreased active metabolite H4 concentration.
Article: Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition
Gene: SLCO1B1
Variant/haplotype: SLCO1B1*1, SLCO1B1*15, SLCO1B1*37
Drug(s): methotrexate
Phenotype category: Metabolism/PK
Significant: yes
Association: SLCO1B1 *15 is associated with decreased clearance of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to SLCO1B1 *1 + *37.
Notes: Please note *1B was mentioned in the article. SLCO1B1*1B was consolidated into  SLCO1B1*37  by PharmVar in 2021.
Article: Evaluating the association of single-nucleotide polymorphisms with tenofovir exposure in a diverse prospective cohort of women living with HIV
Gene: ABCG2
Variant/haplotype: rs2231142
Drug(s): tenofovir
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotypes GT + TT are associated with increased concentrations of tenofovir in women with HIV Infections as compared to genotype GG.
Notes: Patients with the GT or TT genotype had a 1.51-fold increase in tenofovir area under the concentration-time curve (AUC) as compared to those with the GG genotype. Multivariable model controlling for age (per decade), body mass index (per 10 percent increase), African American race, ritonavir use, and whether eGFR is less than 70 ml/min per 1.73m2.
Article: A Pharmacogenetics-Based Warfarin Maintenance Dosing Algorithm from Northern Chinese Patients
Gene: EPHX1
Variant/haplotype: rs4653436
Drug(s): warfarin
Phenotype category: Dosage
Significant: no
Association: Allele G is not associated with dose of warfarin in people with heart valve replacement as compared to allele A.
Notes: Samples, genotypes and INRs from a cohort of 551 patients were used to derive an algorithm which was used to predict daily warfarin maintenance dose in a second cohort of 236 patients. Note: the authors state that "SNPs were tested for deviations from HWE using the chi-squared test, and for their association with the warfarin dose by Spearman correlation analysis using a *co-dominant* model."
Article: A functional variant in the serotonin receptor 7 gene (HTR7), rs7905446, is associated with good response to SSRIs in bipolar and unipolar depression
Gene: HTR7
Variant/haplotype: rs7905446
Drug(s): nortriptyline
Phenotype category: Efficacy
Significant: no
Association: Genotype TT is not associated with response to nortriptyline in people with Depression as compared to genotypes GG + GT.
Article: CYP2C19 and CYP2J2 genotypes predict praziquantel plasma exposure among Ethiopian school-aged children
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17
Drug(s): praziquantel
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2C19 *1/*2 + *2/*2 + *1/*3 + *3/*3 is associated with increased concentrations of praziquantel in children with Schistosomiasis as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17.
Notes: "carriers of CYP2C19 (*2, *3) had an increase in mean PZQ plasma concentration of 0.27 ng/ml (95% CI 0.08–0.46 and p = 0.005) compared to CYP2C19 *1/*1, or *17 carriers." " there was a significant association of CYP2C19 and CYP2J2 genotypes with PZQ plasma concentration and trans-4-OH PZQ/PZQ and Cis-4-OH PZQ/PZQ metabolic ratios. "
Article: Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy
Gene: ABCB1
Variant/haplotype: rs1045642
Drug(s): phenytoin
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with resistance to phenytoin in people with Epilepsy as compared to allele A.
Notes: No significant association between the variant and the number of patients with drug-resistant epilepsy. Please note that alleles have been complemented to the positive strand.
Article: β2-Adrenergic Receptor Gene Affects the Heart Rate Response of β-Blockers: Evidence From 3 Clinical Studies
Gene: ADRB2
Variant/haplotype: rs1042714
Drug(s): atenolol, metoprolol
Phenotype category: Efficacy
Significant: no
Association: Allele G 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 Hispanic patients.
Article: The Effect of Gene Variants on Levonorgestrel Pharmacokinetics when Combined with Antiretroviral Therapy containing Efavirenz or Nevirapine
Gene: CYP2B6
Variant/haplotype: rs4803419
Drug(s): levonorgestrel
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype CT is associated with decreased concentrations of levonorgestrel in women with HIV Infections as compared to genotype CC.
Notes: in patients treated with levonorgestrel implant plus efavirenz. The authors hypothesize that the high EFV plasma concentrations associated with these SNPs may result in greater EFV induction of CYP3A4, resulting in increased LNG metabolism and lower LNG exposure in the patients who were heterozygous or homozygous for CYP2B6 516G>T or CYP2B6 15582C>T.
Article: Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population
Gene: CFH
Variant/haplotype: rs1061170
Drug(s): ranibizumab
Phenotype category: Efficacy
Significant: no
Association: Allele C is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele T.
Notes: Age-related macular degeneration. No significant differences in best-corrected visual acuity (BCVA) changes or central subfield macular thickness (CSMT) changes were seen between baseline and 3 or 6 months of treatment between any of the genotypes.
Article: Polymorphisms in STAT4, PTPN2, PSORS1C1 and TRAF3IP2 Genes Are Associated with the Response to TNF Inhibitors in Patients with Rheumatoid Arthritis
Gene: PTPN2
Variant/haplotype: rs7234029
Drug(s): etanercept
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to etanercept in people with Arthritis, Rheumatoid as compared to allele A.
Notes: No significant associations were seen at either six months or two years after the beginning of treatment when response was measured as number of patients in remission or with low disease activity or by EULAR score.
Article: Effect of UDP-Glucuronosyltransferase (UGT) 1A Polymorphism (rs8330 and rs10929303) on Glucuronidation Status of Acetaminophen
Gene: MROH2A, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
Variant/haplotype: rs10929303
Drug(s): acetaminophen glucuronide
Phenotype category: Metabolism/PK
Significant: not stated
Association: Genotype CC is associated with increased formation of acetaminophen glucuronide in healthy individuals as compared to genotypes CT + TT.
Notes: Authors describe variant as 1813C>T with C as major allele. Complemented here. Authors do not measure significance rather calculate the k value of concordance between genotype and speed of glucuronidation : homozygote reference = fast, heterozygote = intermediate and homozygote minor allele = slow.
Article: Developmental pharmacogenetics of CYP2C19 in neonates and young infants: omeprazole as a probe drug
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*2, CYP2C19*17
Drug(s): omeprazole
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2C19 *2 is associated with decreased clearance of omeprazole in infants with Gastroesophageal Reflux as compared to CYP2C19 *1 + *17.
Notes: Population pharmacokinetic modeling; authors compared clearance of metabolite (M1) of omeprazole with extensive and ultra-rapid metabolizers. CL in poor and intermediate metabolizers (*1/*2 + *2/*2) was 12.5% and 44.9% that of extensive and ultra-rapid metabolizers (*1/*1 + *1/*17)
Article: Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta‐Analysis
Gene: SLC22A2
Variant/haplotype: rs316019
Drug(s): metformin
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C.
Notes: This variant is not associated with metformin glycemic response assessed as HbA1c reduction in patients on metformin monotherapy.
Article: Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV
Variant/haplotype: rs73151902
Drug(s): tenofovir
Phenotype category: Metabolism/PK
Significant: no
Association: Allele A is not associated with clearance of tenofovir in people with HIV Infections as compared to allele G.
Notes: Significance threshold was set at 5.0E-9.
Article: Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients
Gene: IL10
Variant/haplotype: rs1800872
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: no
Association: Allele T is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele G.
Notes: This study was attempting to validate reported variants and tacrolimus trough concentration in a large population of African American and European American kidney transplant patients.  Authors described association as suggestive in the EA population but it did not survive multiple testing correction. Direction of effect not stated.
Article: A Low Fixed Tacrolimus Starting Dose Is Effective and Safe in Chinese Renal Transplantation Recipients
Gene: CYP3A5
Variant/haplotype: CYP3A5*1, CYP3A5*3
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP3A5 *3/*3 is associated with increased trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3.
Notes: Day 7 post-transplant. Additionally, there were significantly more underexposed patients (C0 <5 ng/mL) who had the *1/*1 or *1/*3 genotype, and more overexposed patients (C0 >8 ng/mL) who had the *3/*3 genotype (p=0.045). CYP3A5 genotype was also independently associated with C0 in multivariate logistic regression analysis (p<0.001).
Article: The effect of alpha-2A adrenergic receptor (ADRA2A) genetic polymorphisms on the depth of sedation of dexmedetomidine: a genetic observational pilot study
Gene: ADRA2A
Variant/haplotype: rs3750625
Drug(s): dexmedetomidine
Phenotype category: Dosage
Significant: no
Association: Allele A is not associated with dose of dexmedetomidine in men as compared to allele C.
Article: Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway
Variant/haplotype: rs2831440
Drug(s): antidepressants
Phenotype category: Efficacy
Significant: yes
Association: Allele T is associated with increased response to antidepressants in people with Depressive Disorder, Major as compared to allele G.
Notes: Identity of minor allele not specified, so minor allele of dbSNP used here (T). Remission considered to be score < or equal to 7 at discharge of the Hamilton Rating Scale for Depression (HRSD17). Patients measured at admission and discharge, 4-6 weeks later. Specific antidepressants not listed.
Article: The population pharmacokinetics of R- and S-warfarin: effect of genetic and clinical factors
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*2
Drug(s): warfarin
Phenotype category: Other, Metabolism/PK
Significant: not stated
Association: CYP2C9 *2 is associated with decreased clearance of warfarin as compared to CYP2C9 *1.
Notes: For S-Warfarin in a model that included bodyweight, age and sex.
Article: Influence of CYP2D6 and CYP3A5 Polymorphisms on the Pharmacokinetics and Pharmacodynamics of Bisoprolol in Hypertensive Chinese Patients
Gene: CYP2D6
Variant/haplotype: CYP2D6 poor metabolizer and intermediate metabolizer genotypes
Drug(s): bisoprolol
Phenotype category: Efficacy
Significant: no
Association: CYP2D6 intermediate metabolizer and poor metabolizer is not associated with response to bisoprolol in people with Hypertension as compared to CYP2D6 normal metabolizer.
Notes: CYP2D6 [*10 (100C>T, rs1065852), *4 (1934G>A, rs3892097, 1846G>A/T, rs5030865), *2 (2938C>T, rs16947, 4268G>C, rs1135840) and *5, deletion] and the CYP3A5*3 (rs776746, 6986G>A) polymorphism were selected in this study. There was no significant change in bisoprolol concentrations nor various blood pressure measurements due to CYP2D6 genotype categories.
Article: Ivacaftor in a young boy with the rare gating mutation S549R - use of lung clearance index to track progress: a case report
Gene: CFTR
Variant/haplotype: rs121908757
Drug(s): ivacaftor
Phenotype category: Efficacy
Significant: not stated
Association: Allele C is associated with response to ivacaftor in children with Cystic Fibrosis.
Notes: Case report of a pediatric cystic fibrosis patient (genotype S549R/1717-1G>A) being treated with ivacaftor. Improvements in body weight, cough frequency, sputum production, physical performance, sweat chloride level and FEV1 were reported following six weeks of treatment. Paper does not state if rs121908757 or rs121909005 is the causative variant of S549R.
Article: Pharmacotherapy Effects on Smoking Cessation Vary with Nicotine Metabolism Gene (CYP2A6)
Gene: CYP2A6
Variant/haplotype: CYP2A6 high activity
Drug(s): nicotine
Phenotype category: Efficacy
Significant: yes
Association: CYP2A6 high activity is associated with increased response to nicotine in people with Tobacco Use Disorder as compared to CYP2A6 low activity.
Notes: Patients with a predicted CYP2A6 "fast metabolizer" phenotype were less likely to relapse from smoking cessation when treated with nicotine replacement therapy as compared to CYP2A6 "slow metabolizers".