shlokn/autogkb huggingface dataset:
Article: Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the Genetics of Lipid-Lowering Drugs and Diet Network study
Gene: APOA5
Variant/haplotype: rs662799
Drug(s): fenofibrate
Phenotype category: Efficacy
Significant: no
Association: Genotypes AG + GG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype AA.
Notes: No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate.
Article: GENETIC VARIATION IN CYP4A11 AND BLOOD PRESSURE RESPONSE TO MINERALOCORTICOID RECEPTOR ANTAGONISM OR ENAC INHIBITION: AN EXPLORATORY PILOT STUDY IN AFRICAN AMERICANS
Gene: CYP4A11
Variant/haplotype: rs3890011
Drug(s): amiloride
Phenotype category: Efficacy
Significant: no
Association: Allele C is not associated with response to amiloride in people with Hypertension as compared to allele G.
Notes: This variant was in complete disequilibrium with rs1126742. Alleles are reported as described in the paper however, because this is a G/C SNP, users should be aware that there is ambiguity as to whether the alleles are reported as on the positive strand. Patients in all genotype groups showed a similar reduction in systolic and diastolic blood pressure with amiloride treatment.
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: rs28935195
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 Ala156Thr in the paper.
Article: Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence
Gene: DBH
Variant/haplotype: rs1611114
Drug(s): methadone
Phenotype category: Dosage
Significant: no
Association: Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C.
Article: Effect of CYP4F2 Polymorphisms on Ticagrelor Pharmacokinetics in Healthy Chinese Volunteers
Gene: UGT2B7
Variant/haplotype: rs141257984
Drug(s): AR-C124910XX, ticagrelor
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype GT is not associated with decreased concentrations of AR-C124910XX or ticagrelor in healthy individuals as compared to genotype TT.
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: Efficacy of piroxicam for postoperative pain after lower third molar surgery associated with CYP2C8*3 and CYP2C9
Gene: CYP2C9
Variant/haplotype: rs1057910
Drug(s): piroxicam
Phenotype category: Efficacy
Significant: not stated
Association: Allele C is not associated with response to piroxicam as compared to allele A.
Notes: Subjects had at least one impacted lower third molar extracted. Measurements were taken of 1) postoperative mouth opening (millimeters) was measured pre- and post-op on days 2 & 7 2) and swelling measurements due to edema were recorded and 3) subjective measures of pain. None were associated with the genotype.
Article: Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients
Gene: SLCO1B3
Variant/haplotype: rs7311358
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 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 AA population but it did not survive multiple testing correction and the authors did not state which allele was the associated allele.
Article: Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV
Gene: ADRB2
Variant/haplotype: rs1042713
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.
Article: The CYP19 RS4646 Polymorphism IS Related to the Prognosis of Stage I–II and Operable Stage III Breast Cancer
Gene: CYP19A1
Variant/haplotype: rs4646
Drug(s): anastrozole, letrozole, tamoxifen
Phenotype category: Efficacy
Significant: yes
Association: Genotype AA is associated with decreased response to anastrozole, letrozole or tamoxifen in women with Breast Neoplasms and Menopause as compared to genotypes AC + CC.
Notes: Median follow up time was 96 months and the association was with disease free survival (DFS). Overall there was no difference in DFS by genotype, however when women were split into the pre-menopausal and post-menopausal group, an association was seen between the AA genotype and DFS, but in opposite directions. The AA genotype was associated with shorter DFS in the post-menopausal women and longer DFS in the pre-menopausal women when compared to the AC and CC genotypes (13.7 months in post-menopausal AA women, and 56.3 months in post-menopausal AC+CC women). Chemotherapy included Cyclophosphamide, Doxorubicin/epirubicin and Fluoracil or Doxorubicin, Cyclophosphamide with/without docetaxel, Cyclophosphamide, Epirubicin or Doxorubicin, Cyclophosphamide followed by Docetaxel or weekly Paclitaxel, CAF (Cyclophosphamide, Doxorubicin/Epirubicin and Fluoracil) followed by Docetaxel or weekly Paclitaxel treatment and others, 10 (2.5%) remained unknown.
Article: Genetic Variation in CYP3A43 Explains Racial Difference in Olanzapine Clearance
Gene: CYP3A43
Variant/haplotype: rs472660
Drug(s): ziprasidone
Phenotype category: Metabolism/PK
Significant: no
Association: Allele A is not associated with increased clearance of ziprasidone in people with Schizophrenia as compared to allele G.
Article: Effects of GRK5 and ADRB1 polymorphisms influence on systolic heart failure
Gene: ADRB1
Variant/haplotype: rs1801253
Drug(s): Beta Blocking Agents
Phenotype category: Efficacy
Significant: not stated
Association: Genotype GG is associated with decreased response to Beta Blocking Agents in people with Heart Failure as compared to genotypes CC + CG.
Notes: Patients with systolic heart failure with the rs1801253 CC and CG genotypes show better response to beta-blockers than patients with the GG genotype as measured by systolic heart failure morbidity. The authors measured association of each genotype individually with drug response.
Article: Pharmacokinetics and pharmacogenetics of the MEK1/2 inhibitor, selumetinib, in Asian and Western healthy subjects: a pooled analysis
Gene: CYP2C19
Variant/haplotype: rs4244285
Drug(s): selumetinib
Phenotype category: Metabolism/PK
Significant: no
Association: Allele G is not associated with dose of selumetinib in healthy individuals as compared to allele A.
Notes: Not associated with normalized dose when allele was assessed within ethnic groups (Asian, White, Black) and when all ethnic groups were pooled together.
Article: Early Tacrolimus Concentrations After Lung Transplant are Predicted by Combined Clinical and Genetic Factors and Associated with Acute Kidney Injury
Gene: CYP3A4
Variant/haplotype: CYP3A4*1, CYP3A4*22
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: no
Association: CYP3A4 *22 is associated with decreased metabolism of tacrolimus in people with lung transplantation as compared to CYP3A4 *1/*1.
Notes: The CYP3A4*22 loss of function allele was associated with a 14.6% increase in CDR, but this estimate was nonsignificant.
Article: The pharmacokinetics and pharmacodynamics of ibogaine in opioid use disorder patients
Gene: CYP2D6
Variant/haplotype: CYP2D6 poor metabolizer
Drug(s): ibogaine
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2D6 poor metabolizer is associated with decreased clearance of ibogaine in people with Opioid-Related Disorders as compared to CYP2D6 normal metabolizer.
Notes: "As expected, the clearance of ibogaine to noribogaine was significantly (p < 0.0001) associated with the CYP2D6 AS, shown in Figure 2. The basic clearance (at an AS of 0) of ibogaine was estimated to be 0.82 L/h, but this increased to 30.7 L/h for every point of AS (Figure 2 and Supplemental Material). "
Article: Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants
Gene: CYP2D6
Variant/haplotype: CYP2D6*1, CYP2D6*4
Drug(s): Selective serotonin reuptake inhibitors
Phenotype category: Dosage
Significant: yes
Association: CYP2D6 *4/*4 is associated with decreased dose of Selective serotonin reuptake inhibitors in people with Depression as compared to CYP2D6 *1/*1.
Notes: (*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) SSRIs were grouped together for this analysis (32.5 % of patients were taking paroxetine; 13.4% fluvoxamine;11.6% fluoxetine; 7.3% sertraline;4.6% citalopram;0.1% escitalopram.  Mean SSRI dose was significantly lower at the 3rd  prescription (difference 0.17 DDD) but not significant for the following prescriptions.   Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.
Article: Genomic Association Analysis Reveals Variants Associated With Blood Pressure Response to Beta‐Blockers in European Americans
Variant/haplotype: rs294610
Drug(s): atenolol, metoprolol
Phenotype category: Efficacy
Significant: yes
Association: Allele A is associated with increased response to atenolol or metoprolol in people with Hypertension as compared to allele C.
Notes: The A allele was associated with a greater decrease in diastolic blood pressure in patients receiving metoprolol monotherapy (discovery cohort) or atenolol monotherapy (replication cohort). Note that this SNP reached a level of suggestive significance but not genome-wide significance in the discovery cohort.
Article: Effect of Genotype-Guided Warfarin Dosing on Clinical Events and Anticoagulation Control Among Patients Undergoing Hip or Knee Arthroplasty: The GIFT Randomized Clinical Trial
Gene: CYP2C9
Variant/haplotype: rs1799853
Drug(s): warfarin
Phenotype category: Dosage
Significant: not stated
Association: Allele T is associated with dose of warfarin as compared to allele C.
Article: Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia
Gene: ABCB1
Variant/haplotype: rs1045642
Drug(s): doxorubicin, methotrexate, prednisolone, vincristine
Phenotype category: Efficacy
Significant: yes
Association: Genotype AA is associated with decreased resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.
Notes: The risk of relapse was reduced for those with the AA genotype as compared to those with the GG genotype. Multivariate analysis adjusted for risk, immunophenotype, protocol and gender. Please note that alleles have been complemented to the plus chromosomal strand.