shlokn/autogkb huggingface dataset:
Article: Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers
Gene: CYP3A5
Variant/haplotype: rs4646453
Drug(s): AR-C124910XX, ticagrelor
Phenotype category: Metabolism/PK
Significant: no
Association: Genotypes AA + AC is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype CC.
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: Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study
Variant/haplotype: rs75222709
Drug(s): lithium
Phenotype category: Efficacy
Significant: yes
Association: Allele T is associated with increased response to lithium in people with Bipolar Disorder as compared to allele G.
Notes: Patients had been taking lithium for at least 6 mo. Response to lithium was assayed using the Alda scale, which quantifies symptom improvement over time. The scale is from 0-10, with 10 being the highest response score and 0 being the lowest. The authors evaluated response using a dichotomous (=7 is "responder" and < 7 is "non-responder") and a continuous phenotype (0-10). This SNP was found to be associated with improved response to lithium using the continuous phenotype but not the dichotomous phenotype measure. The association was confirmed in an independent prospective study of 73 patients. This is one of four SNPs in LD that show association (rs79663003, rs78015114, rs74795342, rs75222709).
Article: Pharmacogenetics of Asthma Controller Treatment
Gene: CRHR1
Variant/haplotype: rs1876831
Drug(s): fluticasone propionate
Phenotype category: Efficacy
Significant: yes
Association: Allele T is associated with increased response to fluticasone propionate in people with Asthma as compared to allele C.
Notes: The minor allele is reported to be associated with increased response.  dbSNP lists T as the minor allele in CEU.
Article: Impact of Single Nucleotide Polymorphisms on Plasma Concentrations of Efavirenz and Lopinavir/ritonavir in Chinese Children Infected with the Human Immunodeficiency Virus
Gene: CYP2B6
Variant/haplotype: rs3745274
Drug(s): lopinavir
Phenotype category: Metabolism/PK
Significant: no
Association: Genotypes GT + TT are not associated with concentrations of lopinavir in children with HIV Infections as compared to genotype GG.
Article: Genomic Association Analysis of Common Variants Influencing Antihypertensive Response to Hydrochlorothiazide
Gene: CNTNAP2
Variant/haplotype: rs11763492
Drug(s): "diuretics", "hydrochlorothiazide", "Thiazides, plain"
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with response to diuretics, hydrochlorothiazide or Thiazides, plain in people with Hypertension as compared to allele G.
Notes: Significance was not attained. Observations: 2.89 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA, 1.14 mm Hg decreased reduction of systolic blood pressure per A allele in NORDIL, and 1.59 mm Hg increased reduction of systolic blood pressure per A allele in PEAR + GERA + NORDIL.
Article: Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma
Gene: ABCB1
Variant/haplotype: rs9282564
Drug(s): methotrexate
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele C is associated with increased concentrations of methotrexate in children with as compared to allele T.
Notes: Concentrations refers to area under the concentration time curve (0-48hrs)
Article: Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer
Gene: AKR1C4
Variant/haplotype: rs17134592
Drug(s): exemestane
Phenotype category: Metabolism/PK
Significant: no
Association: Genotypes CG + GG are not associated with concentrations of exemestane in women with Breast Neoplasms as compared to genotype CC.
Notes: No significant difference in exemestane concentrations were seen between the three genotypes.
Article: Race/ethnicity difference in the pharmacogenetics of bilirubin-related atazanavir discontinuation
Gene: UGT1A1
Variant/haplotype: rs887829
Drug(s): atazanavir
Phenotype category: Toxicity
Significant: yes
Association: Genotype TT is associated with increased discontinuation of atazanavir as compared to genotype CC.
Notes: Association with risk to for bilirubin-related atazanavir discontinuation.
Article: Relationship between Lipid Phenotypes, Overweight, Lipid Lowering Drug Response and KIF6 and HMG-CoA Genotypes in a Subset of the Brisighella Heart Study Population
Gene: HMGCR
Variant/haplotype: rs3846662
Drug(s): hmg coa reductase inhibitors
Phenotype category: Efficacy
Significant: no
Association: Genotypes GT + TT are not associated with response to hmg coa reductase inhibitors as compared to genotype GG.
Notes: With regard to lipid-lowering therapy with statins, the authors did not find any association between HMG-CoA or KIF6 genotypes and achievement of <130 mg/dL LDL-C level.
Article: Meta-Analysis of the SLCO1B1 c.521T>C Variant Reveals Slight Influence on the Lipid-Lowering Efficacy of Statins
Gene: SLCO1B1
Variant/haplotype: rs4149056
Drug(s): simvastatin
Phenotype category: Efficacy
Significant: not stated
Association: Genotypes CC + CT are associated with decreased response to simvastatin as compared to genotype TT.
Notes: The lipid-lowering efficacy of simvastatin did show an improvement in patients with the SLCO1B1 c.521T>C wild genotype relative to patients with the variant genotype, with an SMD of -0.26 (95% CI: -0.47- -0.05).
Article: Influence of pharmacogenetic polymorphisms and demographic variables on metformin pharmacokinetics in an admixed Brazilian cohort
Gene: SLC22A1
Variant/haplotype: rs72552763
Drug(s): metformin
Phenotype category: Metabolism/PK
Significant: no
Association: Allele del is not associated with exposure to metformin as compared to allele GAT.
Article: Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
Gene: GLA
Variant/haplotype: rs372966991
Drug(s): migalastat
Phenotype category: Efficacy
Significant: not stated
Association: Allele T is associated with increased response to migalastat in people with Fabry Disease.
Notes: Patients carrying the T allele showed improvements in renal function, cardiac geometry (specifically, reductions in left ventricular mass index) and gastrointestinal symptoms as well as reductions in GL-3 inclusions and plasma lyso-Gb3 and an increase in PBMC alpha-Gal A activity when treated with migalastat. Clinical benefit of migalastat was not substantially affected by disease severity. This variant was designated as an 'amenable variant' to migalastat treatment following an in vitro assay where migalastat increased the activity of alpha-Gal A by at least 3%. As all data were derived from post hoc analysis, statistical analyses were not carried out. Variant referred to as Arg112His in the paper.
Article: Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action
Gene: CSMD1
Variant/haplotype: rs6981827
Drug(s): anastrozole
Phenotype category: Efficacy
Significant: yes
Association: Allele T is associated with decreased response to anastrozole in women with Breast Neoplasms as compared to allele C.
Notes: Response was measured by the decrease in estrogen levels over the course of treatment.
Article: Warfarin pharmacogenetics: a single VKORC1 polymorphism is predictive of dose across 3 racial groups
Gene: VKORC1
Variant/haplotype: rs9934438
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Allele A is associated with decreased dose of warfarin as compared to allele G.
Article: Genome-Wide Pharmacogenomic Study of Neurocognition As an Indicator of Antipsychotic Treatment Response in Schizophrenia
Gene: EHF
Variant/haplotype: rs286913
Drug(s): ziprasidone
Phenotype category: Dosage, Efficacy
Significant: yes
Association: Allele A is associated with increased response to ziprasidone in people with Schizophrenia as compared to allele G.
Notes: Adjacent SNPs also showed evidence for association.  The report is that the minor allele is associated with greater response, and dbSNP shows A to be the minor allele in all populations reported upon.
Article: Association of IL28B gene variations with mathematical modeling of viral kinetics in chronic hepatitis C patients with IFN plus ribavirin therapy
Gene: IFNL3
Variant/haplotype: rs8099917
Drug(s): peginterferon alfa-2a, ribavirin
Phenotype category: Efficacy
Significant: yes
Association: Genotype TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotype GT.
Notes: no GG patients were seen. RVR  seen in 83.1% TT vs. 57.1% GT.
Article: The association of rs1051730 genotype on adherence to and consumption of prescribed nicotine replacement therapy dose during a smoking cessation attempt
Gene: CHRNA3
Variant/haplotype: rs1051730
Drug(s): nicotine
Phenotype category: Dosage
Significant: yes
Association: Allele A is associated with decreased dose of nicotine in people with Tobacco Use Disorder as compared to allele G.
Notes: Each copy of the minor A allele was associated with a 2.9% decrease in nicotine replacement therapy (NRT) adherence and a 1mg decrease in NRT consumption at 7 days after quit attempt. The association between the A allele and decreased NRT adherence lost significance following adjustment for number of cigarettes smoked. No association between this allele and NRT adherence or consumption was seen at 28 days post quit attempt.
Article: Association and cis-mQTL analysis of variants in CHRNA3-A5, CHRNA7, CHRNB2, and CHRNB4 in relation to nicotine dependence in a Chinese Han population
Gene: CHRNA5
Variant/haplotype: rs615470
Drug(s): nicotine
Phenotype category: Other
Significant: no
Association: Allele T is not associated with exposure to nicotine in men as compared to allele C.
Notes: No significant association between this allele and status as a smoker or non-smoker.
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: UGT2B7
Variant/haplotype: rs7668258
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.
Article: Personalized Tacrolimus Dose Requirement by CYP3A5 but Not ABCB1 or ACE Genotyping in Both Recipient and Donor after Pediatric Liver Transplantation
Gene: CYP3A5
Variant/haplotype: rs776746
Drug(s): tacrolimus
Phenotype category: Dosage
Significant: yes
Association: Genotype CC is associated with increased concentrations of tacrolimus in children with liver transplantation as compared to genotypes CT + TT.
Notes: All liver 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. Genotype CC is classified as a CYP3A5 non-expresser (*3/*3) and genotypes CT (*1/*3) + TT (*1/*1) are classified as CYP3A5 expressers. The mean tacrolimus C/D of non-expressor donor/ non-expresser recipient pairs was also higher as compared to all other donor/recipient combinations.
Article: Evaluation of Pupillometry for CYP2D6 Phenotyping in Children Treated with Tramadol
Gene: CYP2D6
Variant/haplotype: CYP2D6 poor metabolizer
Drug(s): o-desmethyltramadol
Phenotype category: Metabolism/PK
Significant: not stated
Association: CYP2D6 poor metabolizer is associated with decreased concentrations of o-desmethyltramadol in children with Pain as compared to CYP2D6 normal metabolizer.
Notes: "Regarding secondary outcomes, this study showed a good relationship between the DOR/DEM MR and the M1/tramadol MR. Both MRs showed a satisfactory distribution for each phenotype predicted as a function of genotype"
Article: Characterizing variability in warfarin dose requirements in children using modelling and simulation
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*2
Drug(s): warfarin
Phenotype category: Dosage, Efficacy
Significant: yes
Association: CYP2C9 *1/*2 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=20 children had the *1/*2 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: Impact of SLCO1B3 Polymorphisms on Clinical Outcomes in Lung Allograft Recipients Receiving Mycophenolic Acid
Gene: UGT1A8
Variant/haplotype: rs1042597
Drug(s): azathioprine, mycophenolic acid
Phenotype category: Efficacy
Significant: no
Association: Allele G is not associated with response to azathioprine or mycophenolic acid in people with lung transplantation as compared to allele C.
Notes: No significant association between this variant and survival post-transplantation or development of acute cellular rejection, lymphocytic bronchiolitis or chronic lung allograft dysfunction (CLAD).
Article: Impact of ATM and SLC22A1 Polymorphisms on Therapeutic Response to Metformin in Iranian Diabetic Patients
Gene: SLC22A1
Variant/haplotype: rs628031
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 G.
Notes: in Iranian patients. Response to metformin was defined by HbA1c and fasting blood sugar (FBS) values.
Article: Polymorphic Variants of SCN1A and EPHX1 Influence Plasma Carbamazepine Concentration, Metabolism and Pharmacoresistance in a Population of Kosovar Albanian Epileptic Patients
Gene: SCN1A
Variant/haplotype: rs3812718
Drug(s): carbamazepine
Phenotype category: Efficacy
Significant: no
Association: Genotype CC is not associated with resistance to carbamazepine in people with Epilepsy as compared to genotypes CT + TT.
Notes: The authors evaluated the distribution of genotypes between individuals who developed resistance to carbamazepine (CBZ) and those who did not. There were no significant differences in genotype distributions between the two groups. Please note: alleles have been complemented to the + chromosomal strand.
Article: Impact of CYP2D6*2, CYP2D6*35, rs5758550, and related haplotypes on risperidone clearance in vivo
Gene: WBP2NL
Variant/haplotype: rs5758550
Drug(s): risperidone
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele A is associated with decreased clearance of risperidone as compared to allele G.
Notes: "Each evaluated CYP2D6 allele was associated with significantly lower risperidone clearance than the reference; normal function allele CYP2D6*1 (p<0.001). Further, rs5758550 differentiated the effect of CYP2D6*2 (p=0.005). "
Article: Pharmacogenetic association with early response to intravitreal ranibizumab for age-related macular degeneration in a Korean population
Gene: ARMS2
Variant/haplotype: rs10490924
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 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: ABCB1 Genotype is Associated with Fentanyl Requirements in Critically Ill Children
Gene: ABCB1
Variant/haplotype: rs1045642
Drug(s): fentanyl
Phenotype category: Dosage
Significant: yes
Association: Genotype AA is associated with decreased dose of fentanyl in children as compared to genotypes AG + GG.
Notes: Pediatric patients with the AA genotype received less fentanyl in an infusion than patients with the AG or GG genotypes.
Article: Effect of CYP3A5 and CYP3A4 Genetic Variants on Fentanyl Pharmacokinetics in a Pediatric Population
Gene: CYP3A4
Variant/haplotype: rs2242480
Drug(s): fentanyl
Phenotype category: Metabolism/PK
Significant: no
Association: Allele T is not associated with clearance of fentanyl in children as compared to allele C (assigned as normal metabolizer phenotype) .
Notes: The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles.
Article: Predictive Value of Interferon-Lambda Gene Polymorphisms for Treatment Response in Chronic Hepatitis C
Gene: IFNL3, IFNL4
Variant/haplotype: rs12979860
Drug(s): peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir
Phenotype category: Efficacy
Significant: yes
Association: Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin or telaprevir in people with Hepatitis C, Chronic as compared to genotypes CT + TT.
Notes: Patients were analyzed by HCV genotype (1,2,3,4). Patients with HCV genotype 1 were divided into groups receiving dual therapy (GT1 (d); peg-intron alpha 2a/b, ribavirn) or triple therapy (GT1 (t); peg-intron alpha 2a/b, ribavirn, telaprevir). Sustained virological response (SVR) is a measure of therapeutic efficacy. Variables that were significant in univariate analysis were included in the multivariate analysis. The authors designated three "beneficial" genotypes that were found at higher frequencies in patients who achieved SVR: rs12979860 CC, rs8099917 TT, rs368234815 TT/TT. These genotypes were often found together. 98% of patients with GT1 (d), 100% of patients with GT1(t), 96% of patients with HCV genotype 2, 92% of patients with HCV genotype 3 and 98% of patients with HCV genotype 4 had those genotype combinations.; rs12979860 CC was the only single SNP associated with SVR across all groups.  rs12979860 CC was significantly associated with SVR in GT1(d) (p<0.01). 71% of GT1(d) patients had rs12979860 CC and s368234815 TT/TT achieved SVR. In univariate analysis, the CC genotype was a significant predictor of SVR in GT1(d) as well as in patients infected with HCV genotype 2/3 (p=0.03).  The CC genotype was found to be significant in a multivariate analysis of predictive factors of SVR within all HCV genotype 1 infected patients. The CC genotype was also associated with higher HCV RNA concentration at baseline in patients with HCV genotype 3 (p<0.001), 2/3 (p<0.001) and GT1(d) (p<0.001) as well as increased ALT levels in HCV genotype 2 (p=0.026) and 2/3 patients (p=0.011).
Article: Effect of UGT1A1, UGT1A3, DIO1 and DIO2 polymorphisms on L-thyroxine doses required for TSH suppression in patients with differentiated thyroid cancer
Gene: DIO2
Variant/haplotype: rs225014
Drug(s): levothyroxine
Phenotype category: Dosage
Significant: no
Association: Allele C is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele A.
Notes: This SNP was not associated with dose in univariate  regression.
Article: VKORC1 and Novel CYP2C9 Variation Predict Warfarin Response in Alaska Native and American Indian People
Gene: VKORC1
Variant/haplotype: rs9934438
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Allele A is associated with decreased dose of warfarin as compared to allele G.
Notes: in Alaska Native and American Indian People. This variant -1639G>A is significantly associated with stable warfarin dose, decreasing the dose required to achieve therapeutic INR by 1.7 mg/day per allele (t-test of coefficients, unadjusted P = 1.4e-05, Bonferroni adjusted P = 7.0e-05). This variant is in complete LD with rs9923231.
Article: Influence of OATP1B1 and BCRP polymorphisms on the pharmacokinetics and pharmacodynamics of rosuvastatin in elderly and young Korean subjects
Gene: SLCO1B1
Variant/haplotype: rs4149056
Drug(s): rosuvastatin
Phenotype category: Efficacy
Significant: no
Association: Genotypes CC + CT are associated with response to rosuvastatin as compared to genotype TT.
Notes: SLCO1B1 521T > C IS partially associated with a higher AUC of rosuvastatin in young subjects and a less pronounced increasing trend in elderly subjects (p > 0.05 for both).
Article: ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence
Gene: ABCB1
Variant/haplotype: rs3789243
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.
Notes: Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone.
Article: Translesion Polymerase Genes Polymorphisms and Haplotypes Influence Survival of Osteosarcoma Patients
Gene: REV3L
Variant/haplotype: rs3204953
Drug(s): cisplatin
Phenotype category: Efficacy
Significant: no
Association: Genotypes CT + TT are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype CC.
Notes: This SNP is not associated with event-free survival (p = 0.998) or overall survival (p = 0.265), as determined by recurrence or death, with mean follow-up time of 143 months.
Article: Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV
Gene: LST1, LTA, TNF
Variant/haplotype: rs1800629
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 4.5E-3.
Article: Prediction of CYP2D6 poor metabolizers by measurements of solanidine and metabolites—a study in 839 patients with known CYP2D6 genotype
Gene: CYP2D6
Variant/haplotype: CYP2D6 poor metabolizer genotype
Drug(s): solanidine
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2D6 poor metabolizer is associated with decreased metabolism of solanidine in people with Depression.
Notes: This study "aimed to compare the predictive value of solanidine and metabolite-to-solanidine ratios of seven solanidine metabolites as biomarkers for CYP2D6 in a large population of psychiatric patients with known CYP2D6 genotype."
Article: Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population
Gene: RELN
Variant/haplotype: rs2237628
Drug(s): aripiprazole, olanzapine, perphenazine, quetiapine, risperidone
Phenotype category: Efficacy
Significant: no
Association: Allele C is not associated with response to aripiprazole, olanzapine, perphenazine, quetiapine or risperidone in people with Schizophrenia as compared to allele T.
Notes: Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.