shlokn/autogkb huggingface dataset:
Article: Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers
Gene: CYP2B6
Variant/haplotype: rs2279342
Drug(s): AR-C124910XX, ticagrelor
Phenotype category: Metabolism/PK
Significant: no
Association: Genotypes AT + TT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype AA.
Notes: from TABLE 4 Ticagrelor pharmacokinetic parameters based on genotypes without statistical significance and TABLE 5; AR-C124910XX pharmacokinetic parameters based on genotypes without statistical significance
Article: Gemcitabine Metabolic and Transporter Gene Polymorphisms Are Associated with Drug Toxicity and Efficacy in Patients with Locally Advanced Pancreatic Cancer
Gene: RRM1
Variant/haplotype: rs9937
Drug(s): gemcitabine
Phenotype category: Efficacy
Significant: yes
Association: Genotype AA is associated with decreased response to gemcitabine in people with Pancreatic Neoplasms as compared to genotypes AG + GG.
Notes: Patients with the AA genotype had shorter progression free survival than patients with either the AG or the GG genotype. However, tumor response to therapy did not significantly differ between genotype groups. This study presented this SNP as rs3177016, but dbSNP has merged that rsID with rs9937. 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).
Article: Tacrolimus dose requirements in paediatric renal allograft recipients are characterized by a biphasic course determined by age and bone maturation
Gene: POR
Variant/haplotype: rs1057868
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype CC is not associated with concentrations of tacrolimus in children with Kidney Transplantation as compared to genotypes CT + TT.
Notes: Dose-corrected tacrolimus exposure (AUC0-12/doseBW).
Article: Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects
Gene: ADGRL3
Variant/haplotype: rs6813183
Drug(s): methylphenidate
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele C.
Notes: Clinical Global Impression-Severity (CGI-S) scale and the Children’s Global Assessment Scale (CGAS).
Article: Genetic markers in CYP2C19 and CYP2B6 for prediction of cyclophosphamide's 4‐hydroxylation, efficacy and side effects in Chinese patients with systemic lupus erythematosus
Gene: CYP2C19
Variant/haplotype: rs4244285
Drug(s): cyclophosphamide
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele A is associated with decreased metabolism of cyclophosphamide in people with Lupus erythematosus as compared to allele G.
Notes: The plasma concentration of cyclophosphamide (CPA) 20 hours post dose (C20h) was not significantly different between genotypes, but plasma concentrations of the CPA metabolite  of 4-OH-CPA was significantly influenced by CYP2B6 -750T>C and CYP2C19*2 genotype (p<0.001). Patients with CYP2C19 *1/*1 genotype had much higher 4-OH-CPA concentrations compared to CYP2C19*1/*2 or *2*2 genotype.
Article: An Expanded Analysis of Pharmacogenetics Determinants of Efavirenz Response that Includes 3′-UTR Single Nucleotide Polymorphisms among Black South African HIV/AIDS Patients
Gene: CYP2A6
Variant/haplotype: rs28399454
Drug(s): efavirenz
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype CC is not associated with concentrations of efavirenz in people with HIV Infections as compared to genotypes CT + TT.
Notes: Alleles presented as G and A
Article: The novel carboxylesterase 1 variant c.662A>G may decrease the bioactivation of oseltamivir in humans
Gene: CES1
Variant/haplotype: rs200707504
Drug(s): oseltamivir
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype CT is associated with increased concentrations of oseltamivir in healthy individuals as compared to genotype TT.
Notes: Please note that alleles have been complemented to the positive strand.
Article: META-ANALYSIS OF CYP2D6 METABOLIZER PHENOTYPE AND METOPROLOL PHARMACOKINETICS
Gene: CYP2D6
Variant/haplotype: CYP2D6 poor metabolizer
Drug(s): metoprolol
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2D6 poor metabolizer is associated with decreased metabolism of metoprolol as compared to CYP2D6 ultrarapid metabolizer.
Notes: Subjects with a gene duplication resulting in more than two active CYP2D6 alleles (i.e., defined as *1, *2, *33, and *35) were classified as UMs. Subjects with two null alleles (i.e.,*3-*8, *11-*16, *19, *20, *21, *38, *40, *42, *44, *56, and *62) in a homozygous variant or compound heterozygous manner was classified as PM phenotype. "Pooled analysis (n= 264) demonstrated differences in peak plasma metoprolol concentration, area under the concentration-time curve, elimination half-life, and apparent oral clearance that were 2.3-, 4.9-, 2.3-, and 5.9-fold between extensive and poor metabolizers, respectively, and 5.3-, 13-, 2.6-, and 15-fold between ultra-rapid and poor metabolizers (all p<0.001). "
Article: A Randomized Placebo-controlled Trial to Test a Genetically-informed Biomarker ForPersonalizing Treatment for Tobacco Dependence
Gene: CYP2A6
Variant/haplotype: CYP2A6 normal metabolizer
Drug(s): varenicline
Phenotype category: Efficacy
Significant: yes
Association: CYP2A6 normal metabolizer is associated with increased response to varenicline in people with Tobacco Use Disorder as compared to CYP2A6 poor metabolizer.
Notes: as compared to nicotine patch. Subjects were assigned to CYP2A6 metabolizer groups (as slow, or poor and as normal, or extensive), which was based on nicotine metabolite ratio (NMR) to 11 weeks of placebo (pill and patch), nicotine patch (active patch, placebo pill), or varenicline (active pill, placebo patch) and behavioral counseling. Intention to treat analysis found that varenicline was better at maintaining tobacco abstinence 7 days after treatment in the extensive metabolizer group as compared to the slow metabolizer group. Poor metabolizers also reported greater severity of adverse events as compared to extensive metabolizers. Subjects treated at UPenn C. for Addiction and Mental Health, Toronto, SUNY Buffalo, MD Anderson Cancer Center.
Article: Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance
Variant/haplotype: rs2525557
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: Possible effect of norepinephrine transporter polymorphisms on methylphenidate-induced changes in neuropsychological function in attention-deficit hyperactivity disorder
Gene: SLC6A2
Variant/haplotype: rs5569
Drug(s): methylphenidate
Phenotype category: Efficacy
Significant: not stated
Association: Genotype GG is associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to genotypes AA + AG.
Notes: After 8 weeks of treatment with methylphenidate, subjects with the G/ G genotype at the G1287A polymorphism showed more improvement in the mean omission error scores (p = 0.006) than those with the A/G or A/A genotypes. Subjects with the G/G genotype showed the greatest decrease in omission errors. Test of variables of attention (TOVA) described as continuous performance test (CPT).
Article: Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*8, CYP2C9*11
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: CYP2C9 *2 + *3 + *5 + *8 + *11 are associated with decreased dose of warfarin as compared to CYP2C9 *1/*1.
Notes: in African American patients. CYP2C9 star alleles were grouped together for analysis ( CYP2C9*2, *3, *5, *8, *11).
Article: Replication study of polymorphisms associated with response to methotrexate in patients with rheumatoid arthritis
Variant/haplotype: rs1901633
Drug(s): methotrexate
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to methotrexate in people with Arthritis, Rheumatoid as compared to allele A.
Article: Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741
Gene: ABCB1
Variant/haplotype: rs1045642
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 AA + AG.
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. Please note that alleles have been complemented to the plus chromosomal strand.
Article: Association study between clinical response to rizatriptan and some candidate genes
Gene: SLC6A4
Variant/haplotype: SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele)
Drug(s): rizatriptan
Phenotype category: Efficacy
Significant: no
Association: SLC6A4 HTTLPR long form (L allele) is not associated with response to rizatriptan in people with Migraine without Aura as compared to SLC6A4 HTTLPR short form (S allele).
Notes: No significant difference in allele frequency between responders and non-responders to rizatriptan.
Article: Association between Polymorphisms in Vascular Endothelial Growth Factor Gene and Response to Chemotherapies in Colorectal Cancer: A Meta-Analysis
Gene: VEGFA
Variant/haplotype: rs2010963
Drug(s): bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele C.
Notes: Response was determined by RECIST criteria. In a subgroup analysis excluding the use of anti-angiogenic agents (e.g. bevacuzimab) no significant association was found for any genotypes and response to chemotherapy.
Article: TOLLIP, MUC5B, and the Response to N-Acetylcysteine among Individuals with Idiopathic Pulmonary Fibrosis
Gene: TOLLIP
Variant/haplotype: rs5743894
Drug(s): acetylcysteine
Phenotype category: Efficacy
Significant: no
Association: Genotype TT is not associated with response to acetylcysteine in people with Pulmonary Fibrosis as compared to genotypes CC + CT.
Notes: Clinical endpoints included death, transplant, hospitalization, or FVC decline,  and risk was adjusted for age, sex, prednisone use, azathioprine use, FVC, diffusion capacity of the lung, and trial/center. Alleles given on reverse strand A and G.
Article: Association of single nucleotide polymorphisms in MTHFR and ABCG2 with the different efficacy of first-line chemotherapy in metastatic colorectal cancer
Gene: MTHFR
Variant/haplotype: rs1801133
Drug(s): antineoplastic agents
Phenotype category: Efficacy
Significant: no
Association: Genotype GG is not associated with response to antineoplastic agents in people with Colorectal Neoplasms as compared to genotypes AA + AG.
Notes: No significant difference in response rate or progression-free survival time was seen between the genotypes. Patients were either receiving FOLFOX/XELOX or FOLFIRI regimens (respectively: fluorouracil, leucovorin, oxaliplatin; capecitabine, oxaliplatin; fluorouracil, leucovorin, irinotecan). Please note alleles have been complemented to the plus chromosomal strand.
Article: The Influence of C3435T Polymorphism of the ABCB1 Gene on Genetic Susceptibility to Depression and Treatment Response in Polish Population - Preliminary Report
Gene: ABCB1
Variant/haplotype: rs1045642
Drug(s): agomelatine, Melatonin receptor agonists, Selective serotonin reuptake inhibitors, venlafaxine
Phenotype category: Efficacy
Significant: yes
Association: Genotype GG is associated with increased response to agomelatine, Melatonin receptor agonists, Selective serotonin reuptake inhibitors or venlafaxine in people with Depressive Disorder as compared to genotypes AA + AG.
Notes: Effectiveness of therapy assessed by change in HDRS score. Patients were treated with either SSRIs alone, SSRI with another antidepressant, venlafaxine of serotonin and norepinephrine reuptake inhibitors, venlafaxine with another antidepressant, agomelatine, or a combination of other antidepressants.
Article: Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder
Gene: STRBP
Variant/haplotype: rs9032
Drug(s): methylphenidate
Phenotype category: Efficacy
Significant: no
Association: Allele C is associated with increased response to methylphenidate in people with Attention Deficit Disorder with Hyperactivity.
Notes: The authors carried out a GWAS in a Spanish cohort of pediatric patients, than performed a meta-analysis using data from the Spanish cohort and data from a Brazilian adult patient cohort.; This variant was not significant in the meta-analysis after Bonferroni correction had been applied, and was nominally significant (i.e did not reach genome-wide significance) in the initial GWAS in the Spanish cohort.; Response was measured on the Clinical Global Impression-Improvement scale (CGI-I). A CGI-I score of two points or less after eight weeks of treatment was considered a good response.
Article: KIF6 gene as a pharmacogenetic marker for lipid-lowering effect in statin treatment
Gene: KIF6
Variant/haplotype: rs20455
Drug(s): atorvastatin, rosuvastatin, simvastatin
Phenotype category: Efficacy
Significant: no
Association: Genotype GG is associated with decreased response to atorvastatin, rosuvastatin or simvastatin in people with Hypercholesterolemia as compared to genotype AA.
Notes: Please note that alleles have been complemented to the positive strand.
Article: Genome-wide association analysis of common genetic variants of resistant hypertension
Variant/haplotype: rs6487504
Drug(s): Antihypertensives
Phenotype category: Efficacy
Significant: no
Association: Allele T is associated with decreased response to Antihypertensives in people with Hypertension as compared to allele C.
Notes: The T allele was associated with increased odds of a patient developing resistant-hypertension. Participants were classified as having resistant hypertension if their SBP was ≥140 or DBP ≥ 90 using three or more medications, or if they were using four or greater antihypertensive medications regardless of BP. However, this SNP failed to reach genome-wide significance in either the INVEST or SPS3 cohorts or when both cohorts were combined. Please note that alleles have been complemented to the positive strand.
Article: RRM1 single nucleotide polymorphism -37C→A correlates with progression-free survival in NSCLC patients after gemcitabine-based chemotherapy
Gene: RRM1
Variant/haplotype: rs1042858
Drug(s): carboplatin, gemcitabine
Phenotype category: Efficacy
Significant: no
Association: Genotype AA is not associated with response to carboplatin and gemcitabine in people with Carcinoma, Non-Small-Cell Lung as compared to genotype GG.
Article: Novel variants in NUDT15 and thiopurine intolerance in children with acute lymphoblastic leukemia from diverse ancestry
Gene: NUDT15
Variant/haplotype: NUDT15*1, NUDT15*2
Drug(s): mercaptopurine
Phenotype category: Dosage, Toxicity
Significant: no
Association: NUDT15 *1/*2 is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to NUDT15 *1/*1.
Notes: One East Asian patient in Singapore was compound heterozygous for rs554405994insGACTCC and rs116855232C>T (corresponding to NUDT15 *2) as well as p.K35E; c.103A>G, which has no rsID. He was very sensitive to mercaptopurine with tolerated dosage of 8.5 mg/m2/day.
Article: Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients
Gene: HTT
Variant/haplotype: rs362306
Drug(s): risperidone
Phenotype category: Efficacy
Significant: no
Association: Allele A is associated with decreased response to risperidone in people with Schizophrenia as compared to allele G.
Notes: The A allele was initially significantly more frequent in patients designated as non-responders to risperidone (i.e. <50% reduction in PANSS score compared to the cohort average). However, significance was lost following correction for multiple testing.
Article: Influence of pharmacogenetics on indinavir disposition and short-term response in HIV patients initiating HAART
Gene: CYP3A4
Variant/haplotype: rs2740574
Drug(s): indinavir
Phenotype category: Metabolism/PK
Significant: not stated
Association: Genotype CC is associated with decreased metabolism of indinavir in people with HIV Infections as compared to genotypes CT + TT.
Notes: treated with indinavir and a ritonavir booster
Article: Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation
Gene: VKORC1
Variant/haplotype: rs17708472
Drug(s): warfarin
Phenotype category: Dosage
Significant: no
Association: Allele A is not associated with increased dose of warfarin as compared to allele G.
Article: PTPRD gene associated with blood pressure response to atenolol and resistant hypertension
Variant/haplotype: rs1104514
Drug(s): atenolol
Phenotype category: Efficacy
Significant: yes
Association: Genotypes AA + AG are associated with increased response to atenolol in people with Hypertension as compared to genotype GG.
Notes: The A allele of this SNP was associated with better DBP response to atenolol, but with less pronounced response to hydrochlorothiazide in white patients.
Article: Thymidylate Synthase Genotype-Directed Chemotherapy for Patients with Gastric and Gastroesophageal Junction Cancers
Gene: TYMS
Variant/haplotype: rs45445694
Drug(s): fluorouracil, leucovorin, oxaliplatin
Phenotype category: Efficacy
Significant: yes
Association: Genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 is associated with increased response to fluorouracil, leucovorin and oxaliplatin in people with Esophageal Neoplasms and Stomach Neoplasms as compared to genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3.
Notes: Patients homozygous for the 2 tandem repeat genotype (*2/*2) had higher rate of progressive response (a decrease of >30% of the longest diameter of lesions) and a lower rate of stable disease (no change in lesion diameter) as compared to patients heterozygous for the 2 and 3 tandem repeat genotype (*2/*3). Overall survival (OS) and progression free survival (PFS) was different between the two groups but not  in a statistically significant manner (*2/*2 OS 20.9 months, PFS 10.2 months and *2/*3 OS 11.4 months and PFS 6.0 months).
Article: Influence of novel CYP2C‐haplotype on proton pump inhibitor pharmacokinetics in children
Gene: CYP2C18
Variant/haplotype: rs11188059
Drug(s): lansoprazole, pantoprazole
Phenotype category: Metabolism/PK
Significant: no
Association: Allele G is not associated with increased metabolism of lansoprazole or pantoprazole in children as compared to allele A.
Notes: "This detailed PK analysis of 45 children who received one or more of the three study PPIs (oral pantoprazole, IV pantoprazole, oral lansoprazole) at different study visits found the CYP2C:TG haplotype to have no measurable impact on CYP2C19‐mediated metabolism of PPIs in vivo" The unofficial haplotype CYP2C:TG comprises rs2860840T and rs11188059G.
Article: Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): morphine
Phenotype category: Dosage, Efficacy
Significant: no
Association: Allele G is not associated with dose of morphine in people with Pain as compared to allele A.
Notes: No association was observed between this variant and a patient's initial dose requirement or their need to escalate their dose of morphine.
Article: A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration
Gene: NRP1
Variant/haplotype: rs2229935
Drug(s): ranibizumab
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to ranibizumab in people with Macular Degeneration as compared to allele A.
Notes: Response was measured as change in visual acuity after 3 months of treatment in patients who received three monthly ranibizumab injections.
Article: Genetic variation in the UGT1A locus is associated with simvastatin efficacy in a clinical practice setting
Gene: UGT1A9
Variant/haplotype: rs2003569
Drug(s): simvastatin
Phenotype category: Efficacy
Significant: yes
Association: Allele A is associated with increased response to simvastatin as compared to allele G.
Notes: The mean Emax (maximum decrease in LDL-C) was 59.3 ± 23.0, 62.0 ± 22.4, and 69.7 ± 24.8 mg/dl, for patients with 0, 1 or 2 copies of the minor A allele.  The difference in response was greater in African-Americans than in European Americans when stratified by race.
Article: Polymorphisms of the Proinflammatory Cytokine Genes Modulate the Response to NSAIDs but Not to Triptans in Migraine Attacks
Gene: IL1A
Variant/haplotype: rs1800587
Drug(s): almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan, zolmitriptan
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with clinical benefit to almotriptan, eletriptan, frovatriptan, rizatriptan, sumatriptan or zolmitriptan in people with Migraine without Aura as compared to allele G.
Notes: Please note that alleles have been complemented to the positive strand.
Article: CES1P1 variant −816A>C is not associated with hepatic carboxylesterase 1 expression, activity or antihypertensive effect of trandolapril
Gene: CES1P1
Variant/haplotype: rs3785161
Drug(s): trandolapril
Phenotype category: Efficacy
Significant: no
Association: Allele C is not associated with response to trandolapril in people with Hypertension as compared to allele A.
Article: Genetic Determinants of Response to Warfarin during Initial Anticoagulation
Gene: VKORC1
Variant/haplotype: rs8050894
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Genotype GG is associated with decreased dose of warfarin as compared to genotype CC.
Notes: With *1/*2 (CG) 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, rs9934438; , and rs2359612 to define HaplotypeA.
Article: Prediction of Warfarin Dose in Pediatric Patients: An Evaluation of the Predictive Performance of Several Models
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*2
Drug(s): warfarin
Phenotype category: Dosage
Significant: not stated
Association: CYP2C9 *2 is associated with dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1.