shlokn/autogkb huggingface dataset:
Article: Effect of A118G (rs1799971) single‐nucleotide polymorphism of the μ‐opioid receptor OPRM1 gene on intraoperative remifentanil requirements in Japanese women undergoing laparoscopic gynecological surgery
Gene: OPRM1
Variant/haplotype: rs1799971
Drug(s): remifentanil
Phenotype category: Dosage
Significant: yes
Association: Genotypes AG + GG is associated with increased dose of remifentanil in women with surgery as compared to genotype AA.
Notes: "The average remifentanil infusion rate tended to be higher in patients with the AG genotype than the AA genotype (p = 0.096) and was significantly higher in patients with the GG genotype than the AA genotype (p = 0.019; Figure 1B). Consequently, it was significantly higher in patients with the AG or GG genotype than the AA genotype (p = 0.028; Figure 1B). " This is during laparoscopic gynecological surgery where there was propofol and remifentanil infusion.
Article: Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans
Gene: FPGS
Variant/haplotype: rs7856096
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Allele G is associated with decreased dose of warfarin as compared to allele A.
Notes: In the combined cohort each minor allele of rs7856096 contributed to -5.81 mg/week change in predicted dose (p= 3.93E-5) using the IWPC algorithm.
Article: Effects of CYP2C19 Loss-of-Function Variants on the Eradication of H. pylori Infection in Patients Treated with Proton Pump Inhibitor-Based Triple Therapy Regimens: A Meta-Analysis of Randomized Clinical Trials
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*2, CYP2C19*3
Drug(s): esomeprazole, lansoprazole, omeprazole, rabeprazole
Phenotype category: Efficacy
Significant: yes
Association: CYP2C19 *1/*1 is associated with decreased response to esomeprazole, lansoprazole, omeprazole or rabeprazole in people with Helicobacter Infections as compared to CYP2C19 *1/*2 + *1/*3.
Notes: Subjects with the *1/*1 genotype had a significantly lower eradication rate of Helicobacter pylori (H. pylori), as compared to those with the *1/*2 or *1/*3 genotype. This was a meta-analysis and included 16 studies. Patients were treated with the drugs anywhere from 7-14 days, and also received antibiotics as part of triple therapy: either amoxicillin and clarithromycin, amoxicillin and metronidazole, or amoxicillin and levofloxacin.
Article: Dual specificity phosphatase-1 as a pharmacogenetic modifier of inhaled steroid response among asthma patients
Gene: DUSP1
Variant/haplotype: rs881152
Drug(s): salbutamol
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with increased response to salbutamol in people with Asthma as compared to allele A.
Notes: Subjects were taking inhaled corticosteroids.
Article: Germline single nucleotide polymorphisms in ERBB3 and BARD1 genes result in a worse relapse free survival response for HER2-positive breast cancer patients treated with adjuvant based docetaxel, carboplatin and trastuzumab (TCH)
Gene: ERBB2
Variant/haplotype: rs1136201
Drug(s): carboplatin, docetaxel, trastuzumab
Phenotype category: Efficacy
Significant: yes
Association: Allele G is associated with decreased response to carboplatin, docetaxel and trastuzumab in women with Breast Neoplasms.
Notes: When compared to women who received different treatment regimens. Response was defined as likelihood of achieving relapse-free survival.
Article: CYP2C8*3 predicts benefit/risk profile in breast cancer patients receiving neoadjuvant paclitaxel
Gene: CYP1B1
Variant/haplotype: rs1056836
Drug(s): paclitaxel
Phenotype category: Efficacy
Significant: no
Association: Genotypes CC + CG are not associated with increased response to paclitaxel in women with Breast Neoplasms as compared to genotype GG.
Notes: Response = complete clinical response (cCR).  Some patients who had HER2 overexpressing tumors received trastuzumab at the same time as the paclitaxel. Also reported in article as CYP1B1*3;C>G.  Gene is on negative strand, so annotated as *3 = C.
Article: Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy
Variant/haplotype: rs12518285
Drug(s): vancomycin
Phenotype category: Metabolism/PK
Significant: no
Association: Allele T is not associated with trough concentration of vancomycin as compared to allele C.
Notes: The SNP was not associated with trough levels of vancomycin (first vancomycin trough documented in EMR after at least 3 doses vancomycin). Elimination constants were also calculated.
Article: TRAF1/C5 but Not PTPRC Variants Are Potential Predictors of Rheumatoid Arthritis Response to Anti-Tumor Necrosis Factor Therapy
Gene: PADI4
Variant/haplotype: rs2240340
Drug(s): Tumor necrosis factor alpha (TNF-alpha) inhibitors
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with decreased response to Tumor necrosis factor alpha (TNF-alpha) inhibitors in people with Arthritis, Rheumatoid as compared to allele C.
Notes: using either the absolute change in DAS28 or the proportion of good responders and non-responders as outcomes.
Article: Contribution of Cytochrome P450 and ABCB1 Genetic Variability on Methadone Pharmacokinetics, Dose Requirements, and Response
Gene: CYP3A5
Variant/haplotype: CYP3A5*1, CYP3A5*3
Drug(s): methadone
Phenotype category: Dosage
Significant: no
Association: CYP3A5 *3/*3 is not associated with dose of methadone in people with Opioid-Related Disorders as compared to CYP3A5 *1/*1 + *1/*3.
Notes: No significant difference in methadone dose between genotypes. No details about which specific variants/alleles were tested for.
Article: S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis
Gene: UGT1A6
Variant/haplotype: UGT1A6*2a
Drug(s): irinotecan, oxaliplatin, tegafur / gimeracil / oteracil
Phenotype category: Efficacy
Significant: no
Association: UGT1A6 *2a is not associated with response to irinotecan, oxaliplatin and s 1 (combination) in people with Colorectal Neoplasms.
Notes: No significant difference in the objective response rate was seen between those with the *2 allele (82% responders) and those without one (63%).
Article: Influence of Cytochrome P450 2C19 Genotype on Helicobacter pylori Proton Pump Inhibitor-Amoxicillin-Clarithromycin Eradication Therapy: A Meta-Analysis
Gene: CYP2C19
Variant/haplotype: CYP2C19 normal metabolizer genotype
Drug(s): amoxicillin, clarithromycin, lansoprazole
Phenotype category: Efficacy
Significant: yes
Association: CYP2C19 normal metabolizer is associated with decreased clinical benefit to amoxicillin, clarithromycin and lansoprazole in people with Helicobacter Infections as compared to CYP2C19 poor metabolizer.
Notes: "Meta-analysis of studies that used omeprazole and lansoprazole as the first-generation PPI showed that the RR of failed eradication in CYP2C19 EMs compared with PMs"
Article: Genome-wide association study of antidepressant response: involvement of the inorganic cation transmembrane transporter activity pathway
Gene: CACNA1A
Variant/haplotype: rs2112460
Drug(s): antidepressants
Phenotype category: Efficacy
Significant: yes
Association: Allele A 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 (A). Response considered to be successful with a 50% reduction 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: GENOME-WIDE AND GENE-BASED META-ANALYSES IDENTIFY NOVEL LOCI INFLUENCING BLOOD PRESSURE RESPONSE TO HYDROCHLOROTHIAZIDE
Gene: TTC6
Variant/haplotype: rs177852
Drug(s): hydrochlorothiazide
Phenotype category: Efficacy
Significant: yes
Association: Genotypes CC + CT is associated with increased response to hydrochlorothiazide in people with Hypertension as compared to genotype TT.
Notes: Participants were from the PEAR-1 black cohort. This association was associated with DBP response.
Article: Influence of COMT (rs4680) and DRD2 (rs1076560, rs1800497) Gene Polymorphisms on Safety and Efficacy of Methylphenidate Treatment in Children with Fetal Alcohol Spectrum Disorders
Gene: DRD2
Variant/haplotype: rs1800497
Drug(s): methylphenidate
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with increased response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity and Fetal Alcohol Syndrome as compared to allele G.
Notes: "No association of the studied polymorphisms: DRD2 rs1076560:C > A or DRD2 rs1800497:G > A with the efficacy or safety of MPH treatment was observed"
Article: Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients
Gene: IL1RN
Variant/haplotype: rs419598
Drug(s): sufentanil
Phenotype category: Dosage
Significant: no
Association: Allele C is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele T.
Article: The impact of diuretic use and ABCG2 genotype on the predictive performance of a published allopurinol dosing tool
Gene: ABCG2
Variant/haplotype: rs10011796
Drug(s): allopurinol
Phenotype category: Dosage
Significant: no
Association: Allele T is not associated with dose of allopurinol in people with Gout as compared to allele C.
Article: Association between the XRCC1 polymorphisms and clinical outcomes of advanced NSCLC treated with platinum-based chemotherapy: a meta-analysis based on the PRISMA statement
Gene: XRCC1
Variant/haplotype: rs25487
Drug(s): platinum
Phenotype category: Efficacy
Significant: yes
Association: Genotypes CT + TT is associated with decreased response to platinum in people with Lung Neoplasms as compared to genotype CC.
Notes: Pooled odds ratios (ORs) were performed for an allele model, a homozygous model, a heterozygous model, a recessive model and a dominant model. The association was significant for response rate and overall survival with the recessive model, but was not associated with progression free survival.
Article: Novel Associations of VKORC1 Variants with Higher Acenocoumarol Requirements
Gene: VKORC1
Variant/haplotype: rs55894764
Drug(s): acenocoumarol
Phenotype category: Dosage
Significant: yes
Association: Genotypes CT + TT is associated with increased dose of acenocoumarol as compared to genotype CC.
Notes: 16 vs 14 mg/week.
Article: Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis
Gene: CYP2C19
Variant/haplotype: rs4986893
Drug(s): selumetinib
Phenotype category: Metabolism/PK
Significant: no
Association: Allele G is not associated with metabolism of selumetinib in healthy individuals as compared to allele A.
Notes: Not associated with AUC, AUC0-12 when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together. Only P-values for AUC presented here.
Article: Integrative genomic analysis of methylphenidate response in attention-deficit/hyperactivity disorder
Gene: PDIA2
Variant/haplotype: rs1048786
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: Pharmacogenetic Influence of LOC387715/HTRA1 on the Efficacy of Bevacizumab Treatment for Age-Related Macular Degeneration in a Korean Population
Gene: CFH
Variant/haplotype: rs1061170
Drug(s): bevacizumab
Phenotype category: Efficacy
Significant: no
Association: Genotype CT is not associated with response to bevacizumab in people with Macular Degeneration as compared to genotype TT.
Notes: No significant differences in improvement in visual acuity (using a Snellen eye exam chart then converted to a logarithm of the minimal angle of resolution value) or changes in central macular thickness (measured by optical coherence tomography) were seen between the genotypes, over either 6 or 12 months of treatment.
Article: Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2
Gene: PSMA4
Variant/haplotype: rs57064725
Drug(s): cotinine
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele C.
Notes: The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was detected as a residual association after accounting for rs10851907.
Article: Characterizing variability in warfarin dose requirements in children using modelling and simulation
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*3
Drug(s): warfarin
Phenotype category: Dosage, Efficacy
Significant: yes
Association: CYP2C9 *1/*3 is associated with decreased dose of warfarin in children with Heart Diseases as compared to CYP2C9 *1/*1.
Notes: A model was created to predict maintenance doses for children of different ages, all with a baseline INR of 1 and a target INR of 2.5, based on longitudinal data from children taking warfarin. Due to the nature of the model, the quantitative CYP2C9 allele effects on clearance were assumed to be the same as for adults - n=23 children had the *1/*3 genotype in the data cohort. CYP2C9 genotype, VKORC1 genotype, bodyweight, age, baseline INR, target INR and time since initiation of therapy were all found to be significant causes of warfarin dose variability in children. This association is based on a table presenting results from the model predicting warfarin dose for children of 2, 8 and 14 years old with different rs9923231 genotype and CYP2C9 genotype presented in the paper. CYP2C9*2 was defined as rs1799853 and *3 as rs1057910.
Article: Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery
Gene: UGT2B7
Variant/haplotype: rs11931604
Drug(s): fentanyl
Phenotype category: Efficacy
Significant: no
Association: Allele C is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele T.
Notes: There was no significant difference in PPLpost-PPLpre between the genotype groups.
Article: Interplay of Genetic Risk Factors (CHRNA5-CHRNA3-CHRNB4) and Cessation Treatments in Smoking Cessation Success
Gene: CHRNA3, CHRNA5
Variant/haplotype: rs16969968
Drug(s): Drugs used in nicotine dependence
Phenotype category: Other
Significant: yes
Association: Allele G is associated with increased response to Drugs used in nicotine dependence in people with Tobacco Use Disorder.
Notes: in haplotype analysis; individuals with haplotype 2 (rs16969968 allele G - rs680244 allele T) were more likely to respond to active treatment/ had a lower risk of relapse (ability to quit smoking as measured by time to relapse to smoking over 60 days) than those with haplotype 2 that were treated with placebo. The ability to quit cigarette smoking was not significantly different in individuals with haplotype 1 (rs16969968 allele G - rs680244 allele C) that underwent active treatment compared to placebo (p=0.36).
Article: Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta‐Analysis
Gene: SLC22A1
Variant/haplotype: rs12208357
Drug(s): metformin
Phenotype category: Efficacy
Significant: no
Association: Allele T 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: Gene Variations of Sixth Complement Component Affecting Tacrolimus Metabolism in Patients with Liver Transplantation for Hepatocellular Carcinoma
Gene: C6
Variant/haplotype: rs9200
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotypes CC + CT are associated with decreased dose-adjusted trough concentrations of tacrolimus in people with liver transplantation as compared to genotype TT.
Notes: When considering RECIPIENT genotype - those with the CC or CT genotype had decreased concentration/dose ratios as compared to those with the TT genotype at weeks 1, 2 and 3 of treatment. No significant difference was seen at week 4. In multiple linear regression analysis, recipient rs9200 genotype was associated with concentration/dose ratio at week 1 (p=0.005), 2 (p=0.045) and 3 (p=0.033) of treatment. Patients with hepatocellular carcinoma. Please note that alleles have been complemented to the plus chromosomal strand.
Article: Genetic Polymorphisms in Aquaporin 1 as Risk Factors for Malignant Mesothelioma and Biomarkers of Response to Cisplatin Treatment
Gene: AQP1
Variant/haplotype: rs28362731
Drug(s): cisplatin
Phenotype category: Efficacy
Significant: no
Association: Genotype AG is not associated with response to cisplatin in people with Mesothelioma as compared to genotype GG.
Notes: No significant association between genotype and progress-free survival, overall survival or chemotherapy response in patients with malignant mesothelioma who were treated with cisplatin-based chemotherapy.
Article: Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients
Gene: NFKBIA
Variant/haplotype: rs696
Drug(s): sufentanil
Phenotype category: Dosage
Significant: yes
Association: Genotype TT is associated with increased dose of sufentanil in people with Pain, Postoperative as compared to genotypes CC + CT.
Article: Impact of the novel CYP2C:TG haplotype and CYP2B6 variants on sertraline exposure in a large patient population
Gene: CYP2C18
Variant/haplotype: rs11188059
Drug(s): sertraline
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype GG is associated with decreased concentrations of sertraline as compared to genotype AA.
Notes: Compared with the reference group (CYP2C19*1/*1), a lower sertraline serum concentration was observed in CYP2C19*17/*17 (21.6% decrease, n = 44, p = 0.003), CYP2C:TG/CYP2C:TG (rs2860840 and rs11188059 together; 21.2% decrease, n = 26, p = 0.022), CYP2C19*17/ CYP2C:TG (20.0% decrease, n = 65, p = 0.003), and CYP2C19*1/*17 (17.0% decrease, n = 150, p < 0.001) patients, while no significant impact of CYP2C19*1/ CYP2C:TG genotype was detected in this patient population (n = 142, p > 0.1).
Article: VKORC1 variants as significant predictors of warfarin dose in Emiratis
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 genotypes AC + CC.
Notes: Please note that alleles have been complemented to the positive strand.
Article: Genetic Polymorphisms Associated with Vincristine Pharmacokinetics and Vincristine-Induced Peripheral Neuropathy in Pediatric Oncology Patients
Gene: MTNR1B
Variant/haplotype: rs8192552
Drug(s): vincristine
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype AG is associated with increased exposure to vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to genotype GG.
Notes: in a subset of study of vincristine-induced peripheral neuropathy with PK measurements.
Article: Potential role of polymorphisms in the transporter genes ENT1 and MATE1/OCT2 in predicting TAS-102 efficacy and toxicity in patients with refractory metastatic colorectal cancer
Gene: SLC22A2
Variant/haplotype: rs316019
Drug(s): tipiracil hydrochloride, trifluridine
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with response to tipiracil hydrochloride and trifluridine in people with Colorectal Neoplasms as compared to allele C.
Notes: The SNP was tested for association alone and with three other SNPs after univariate and multivariate analysis in a training (N= 52, Japan) and testing cohorts (N = 127, Italy). It was not significantly associated with progression-free or overall survival in either cohort.
Article: Genome-wide association study of letrozole plasma concentrations identifies non-exonic variants that may affect CYP2A6 metabolic activity
Gene: CYP2A6
Variant/haplotype: rs56113850
Drug(s): letrozole
Significant: not stated
Association: Allele T is associated with increased concentrations of letrozole in women with Breast Neoplasms as compared to allele C.
Notes: Study indicates lower metabolic activity for the T allele, as indicated by higher letrozole concentrations (β = 1.45)
Article: Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters
Gene: ABCB1
Variant/haplotype: rs2032582
Drug(s): talinolol
Phenotype category: Metabolism/PK
Significant: no
Association: Allele C is not associated with clearance of talinolol in healthy individuals as compared to allele A.
Notes: This was a twin study of monozygotic and dizygotic twins.
Article: ADCY9 Genetic Variants and Cardiovascular Outcomes With Evacetrapib in Patients With High-Risk Vascular Disease: A Nested Case-Control Study
Variant/haplotype: rs1967309
Drug(s): evacetrapib
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with response to evacetrapib in people with Cardiovascular Diseases as compared to allele G.
Notes: After adjusting for risk factors, the OR for the AA genotype was 0.93 (95% CI, 0.73-1.19), for the AG genotype 1.05 (95% CI, 0.91-1.22), and for the GG genotype 1.02 (95% CI 0.85-1.24); P-value for interaction was P=0.71 and for trend P = 0.59. There was no association with changes in HDL-c, LDL-c, hsCRP, systolic or diastolic blood pressure.
Article: Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients
Gene: IL18
Variant/haplotype: rs1946519
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: no
Association: Allele A is not associated with trough concentration of tacrolimus in people with Kidney Transplantation and Transplantation as compared to allele C.
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. This SNP is a proxy for rs1946518 (A-607C).
Article: Frequencies of CYP2C9 polymorphisms in North Indian population and their association with drug levels in children on phenytoin monotherapy
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*2
Drug(s): phenytoin
Phenotype category: Metabolism/PK
Significant: no
Association: CYP2C9 *1/*2 is not associated with dose of phenytoin in children with as compared to CYP2C9 *1/*1.
Article: ADRB2 Gene Polymorphisms and Salbutamol Responsiveness in Serbian Children with Asthma
Gene: ADRB2
Variant/haplotype: rs1042714
Drug(s): salmeterol
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with increased response to salmeterol in children Asthma as compared to allele C.
Notes: No significant association of +79C>G polymorphisms with the asthma severity and bronchodilator response to inhaled salbutamol was found.