shlokn/autogkb huggingface dataset:
Article: Germline Genetic Variants in TEK, ANGPT1, ANGPT2, MMP9, FGF2 and VEGFA Are Associated with Pathologic Complete Response to Bevacizumab in Breast Cancer Patients
Gene: ANGPT2
Variant/haplotype: rs13269021
Drug(s): bevacizumab
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to bevacizumab in women with Breast Neoplasms as compared to allele G.
Article: Interaction between ABCG2 421C>A polymorphism and valproate in their effects on steady‐state disposition of lamotrigine in adults with epilepsy
Gene: ABCG2
Variant/haplotype: rs2231142
Drug(s): lamotrigine
Phenotype category: Metabolism/PK
Significant: no
Association: Allele G is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele T.
Article: ABC Transporter Polymorphisms are Associated with Irinotecan Pharmacokinetics and Neutropenia
Gene: ABCC1
Variant/haplotype: rs35621
Drug(s): SN-38
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotypes CT + TT are associated with increased exposure to SN-38 in people with Colorectal Neoplasms as compared to genotype CC.
Notes: AUC of SN-38 was adjusted for irinotecan dose.
Article: Evaluation of CYP2C19 Genetic Variant and Its Lack of Association with Valproic Acid Plasma Concentrations Among Zhuang and Han Schizophrenia Patients in Guangxi
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*2, CYP2C19*3
Drug(s): valproic acid
Phenotype category: Metabolism/PK
Significant: no
Association: CYP2C19 *2/*2 + *2/*3 (assigned as poor metabolizer phenotype) is associated with increased concentrations of valproic acid in people with Schizophrenia as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .
Notes: "The standardized VPA blood concentrations for the NM, IM, and PM metabolic phenotypes exhibited a gradual increase without statistical significance. Furthermore, while differences in blood concentrations among different age groups were not statistically significant, females had significantly higher blood concentrations than males, with statistical significance. Table 6."
Article: Two Novel Loci of RELN Associated With Antipsychotics Response in Chinese Han Population
Gene: RELN
Variant/haplotype: rs362626
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 A.
Notes: Response was assessed by changes in PANSS score. A reduction of 50% or more in PANSS score was classified as a good response.
Article: Characterization of Statin Dose-response within Electronic Medical Records
Gene: SLCO1B1
Variant/haplotype: rs4149056
Drug(s): simvastatin
Phenotype category: Efficacy
Significant: yes
Association: Genotypes CC + CT are associated with decreased response to simvastatin.
Notes: This variant is associated with simvastatin potency (ED50) from dose-response curves in EMRs.
Article: Lack of tacrolimus circadian pharmacokinetics and CYP3A5 pharmacogenetics in the early and maintenance stages in Japanese renal transplant recipients
Gene: ABCB1
Variant/haplotype: rs2032582
Drug(s): tacrolimus
Phenotype category: Toxicity, Metabolism/PK
Significant: no
Association: Genotypes CC + CT is not associated with metabolism of tacrolimus in people with Kidney Transplantation as compared to genotypes AC + AT.
Notes: + AA. No significant differences in dose-adjusted area under the concentration-time curve from 0-12 hours (AUC0-12/D), dose-adjusted trough level (C0/D), dose-adjusted maximum plasma concentration (Cmax/D), body weight-adjusted clearance or AUC0-12 were seen between any of the CC, CT, AC, AT or AA genotypes. Please note alleles have been complemented to the plus chromosomal strand.
Article: Influences of Organic Cation Transporter Polymorphisms on the Population Pharmacokinetics of Metformin in Healthy Subjects
Gene: SLC47A2
Variant/haplotype: rs12943590
Drug(s): metformin
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype GG is not associated with increased clearance of metformin in healthy individuals as compared to genotypes AA + AG.
Notes: No significant difference in area under the serum concentration-time curve from zero to infinity (AUCinf) or peak concentration (Cmax) of metformin was seen between the two genotype groups.
Article: FTO rs9939609 polymorphism is associated with metabolic disturbances and response to HCV therapy in HIV/HCV-coinfected patients
Gene: FTO
Variant/haplotype: rs9939609
Drug(s): "interferon alfa-2a, recombinant", "interferon alfa-2b, recombinant", "ribavirin"
Phenotype category: Efficacy
Significant: yes
Association: Genotypes AA + AT is associated with decreased response to interferon alfa-2a, recombinant, interferon alfa-2b, recombinant and ribavirin in people with Hepatitis C, Chronic and HIV Infections as compared to genotype TT.
Article: The Relation Between CYP2C19 Genotype and Phenotype in Stented Patients on Maintenance Dual Antiplatelet Therapy
Gene: CYP2C19
Variant/haplotype: rs12248560
Drug(s): aspirin
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with increased response to aspirin in people with Coronary Artery Disease as compared to allele C.
Notes: Aspirin 81-325 mg/d for at least 2 weeks.  ADP-induced ex vivo platelet aggregation was measured.  *17 SNP.  Comparison was between T carriers and non-carriers. [stat_test: chi-square]
Article: Assessment of Human Tribbles Homolog 3 Genetic Variation (rs2295490) Effects on Type 2 Diabetes Patients with Glucose Control and Blood Pressure Lowering Treatment
Gene: TRIB3
Variant/haplotype: rs2295490
Drug(s): indapamide, perindopril
Phenotype category: Efficacy
Significant: no
Association: Genotype AA is associated with increased response to indapamide and perindopril in people with Diabetes Mellitus, Type 2 as compared to genotypes AG + GG.
Notes: SBP presented no remarkable difference between AA and AG+GG genotype groups. In the group receiving therapy, AA genotype carriers had a mean decrease of DBP of 0.8mmHg. No difference was seen in SBP.
Article: Drug Metabolizing Enzyme and Transporter Gene Variation, Nicotine Metabolism, Prospective Abstinence, and Cigarette Consumption
Gene: CYP2A6
Variant/haplotype: rs4803381
Drug(s): bupropion, Drugs used in nicotine dependence
Phenotype category: Efficacy
Significant: yes
Association: Allele T is associated with increased response to bupropion and Drugs used in nicotine dependence in people with Tobacco Use Disorder as compared to allele C.
Notes: The T allele was nominally significantly associated with six month abstinence in one arm of 66 individuals first treated with combined nicotine replacement therapy (NRT) and bupropion from baseline to 12 weeks and then randomized to chronic bupropion (P = 0.023).
Article: Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C
Gene: VDR
Variant/haplotype: rs2228570
Drug(s): peginterferon alfa-2b, ribavirin
Phenotype category: Efficacy
Significant: yes
Association: Allele A is associated with increased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to allele G.
Notes: This genotype is associated with sustained virological response (SVR).
Article: A genetic variant in Rassf1a predicts outcome in mCRC patients treated with cetuximab plus chemotherapy: results from FIRE-3 and JACCRO 05 and 06 trials
Gene: RASSF1
Variant/haplotype: rs2073498
Drug(s): cetuximab
Phenotype category: Efficacy
Significant: no
Association: Genotypes AA + AC is not associated with response to cetuximab in people with Colorectal Neoplasms as compared to genotype CC.
Notes: No significant difference in tumor response, progression-free survival or overall survival was seen between the genotype groups. Patients also receiving treatment with fluorouracil, leucovorin and irinotecan (FOLFIRI).
Article: Progressive decline in tacrolimus clearance after renal transplantation is partially explained by decreasing CYP3A4 activity and increasing haematocrit
Gene: CYP3A5
Variant/haplotype: CYP3A5*1, CYP3A5*3
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP3A5 *3/*3 is associated with decreased metabolism of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*3.
Notes: Patients with the *3/*3 genotype had increased trough concentrations (both dose-corrected and non-dose-corrected), increased area under the concentration-time curve from 0-12 hours (AUC0-12; both dose-corrected and non-dose-corrected), decreased clearance (both weight-adjusted and non-weight-adjusted) and decreased dose as compared to those with the *1/*3 genotype.
Article: Allergic bronchopulmonary aspergillosis as an initial manifestation of cystic fibrosis: Diagnostic and therapeutic implications in the era of CFTR modulators
Gene: CFTR
Variant/haplotype: CFTR D1152H, CFTR R347H
Drug(s): elexacaftor / tezacaftor / ivacaftor
Phenotype category: Efficacy
Significant: no
Association: CFTR R347H + D1152H is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis and Aspergillosis.
Notes: "We present the case of a 20-year-old male with ABPA and bronchiectasis that was initially misdiagnosed as a result of normal sweat chloride values and negative first-level genetic testing results. Comprehensive CFTR gene sequencing revealed 2 pathogenic variants, R347H and D1152H, which together with the clinical phenotype and functional tests, supported the diagnosis of CF. Treatment with elexacaftor/tezacaftor/ivacaftor resulted in significant clinical and functional improvement, including a marked decrease in total IgE levels, suggesting a potential role for CFTR modulators in controlling ABPA. "
Article: Influence of Receptor Polymorphisms on the Response to α-Adrenergic Receptor Blockers in Pheochromocytoma Patients
Gene: ADRA2A
Variant/haplotype: rs553668
Drug(s): doxazosin, phenoxybenzamine
Phenotype category: Dosage
Significant: no
Association: Allele G is associated with decreased dose of doxazosin or phenoxybenzamine in people with Pheochromocytoma or Paraganglioma as compared to allele A.
Notes: "The G alleles of rs10515807 in the ADRA1B gene and rs553668 in the ADRA2A gene both caused a three times lower risk of being in a higher dosage step than allele A" "However, none of these significances survived the multiple testing correction."
Article: Variation in Maturity-Onset Diabetes of the Young Genes Influence Response to Interventions for Diabetes Prevention
Gene: HNF4A
Variant/haplotype: rs3212185
Drug(s): metformin
Phenotype category: Efficacy
Significant: no
Association: Genotype CT is not associated with response to metformin as compared to genotype CC.
Notes: Subjects were at high risk of diabetes and were recruited from Diabetes Prevention Program (DPP) and were followed for a year. The authors measured changes in response to insulin at baseline and one year after treatment. The C allele was not associated with response to Metformin (vs. Placebo) and after multiple testing corrections.
Article: Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus
Gene: CYP2C9
Variant/haplotype: rs1057910
Drug(s): sulfonamides, urea derivatives
Phenotype category: Efficacy
Significant: no
Association: Allele C is not associated with response to sulfonamides, urea derivatives in people with Diabetes Mellitus as compared to allele A.
Notes: This is the defining SNP of CYP2C9*3
Article: Gene‐Wide Tagging Study of the Association Between KCNT1 Polymorphisms and the Susceptibility and Efficacy of Genetic Generalized Epilepsy in Chinese Population
Gene: KCNT1
Variant/haplotype: rs7855716
Drug(s): antiepileptics
Phenotype category: Efficacy
Significant: no
Association: Allele C is not associated with response to antiepileptics in people with Epilepsy, Generalized as compared to allele G.
Notes: No significant differences in genotype frequencies were seen between patients who were responsive to antiepileptic drugs (n=279; those who had not experienced any type of seizure for a minimum of 1 year after receiving antiepileptic drugs) and patients who were resistant to antiepileptic drugs (n=204; those who had at least four seizures during the previous year while trying at least three antiepileptic medications at the maximal tolerated doses).
Article: Pharmacogenetics of tenofovir clearance among Southern Africans living with HIV
Variant/haplotype: rs12777823
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: Pharmacogenetic Predictors of Adverse Events and Response to Chemotherapy in Metastatic Colorectal Cancer: Results From North American Gastrointestinal Intergroup Trial N9741
Gene: GSTM1
Variant/haplotype: GSTM1 non-null, GSTM1 null
Drug(s): fluorouracil, irinotecan, oxaliplatin
Phenotype category: Efficacy
Significant: no
Association: GSTM1 null/null is not associated with response to fluorouracil, irinotecan or oxaliplatin in people with Colorectal Neoplasms as compared to GSTM1 non-null/non-null + non-null/null.
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: Association between UGT2B7 gene polymorphisms and fentanyl sensitivity in patients undergoing painful orthognathic surgery
Gene: UGT2B7
Variant/haplotype: rs4296738
Drug(s): fentanyl
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with response to fentanyl in people with Pain, Postoperative as compared to allele G.
Notes: There was no significant difference in PPLpost-PPLpre between the genotype groups.
Article: CYP2C19 Loss‐of‐function Polymorphisms are Associated with Reduced Risk of Sulfonylurea Treatment Failure in Chinese Patients with Type 2 Diabetes
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*2, CYP2C19*3
Drug(s): sulfonamides, urea derivatives
Phenotype category: Efficacy
Significant: yes
Association: CYP2C19 *2/*2 + *2/*3 + *3/*3 (assigned as poor metabolizer phenotype) are associated with increased response to sulfonamides, urea derivatives in people with Diabetes Mellitus, Type 2 as compared to CYP2C19 *1/*1 (assigned as normal metabolizer phenotype) .
Notes: CYP2C19 poor metabolizers had lower risk of SU treatment failure and were more likely to reach the HbA1c treatment target < 7% than wild-type carriers (CYP2C19 *1/*1).
Article: Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
Gene: CFTR
Variant/haplotype: rs113993960
Drug(s): ivacaftor
Phenotype category: Efficacy
Significant: yes
Association: Allele del is associated with increased response to ivacaftor.
Notes: In vitro assays that show that ivacaftor potentiates CFTR with the F508del mutation (rs113993960 del) *in cells that have been temperature corrected to enhance expression of F508del CFTR at the plasma membrane* - see details described in study parameters.
Article: Rare versus common variants in pharmacogenetics: SLCO1B1 variation and methotrexate disposition
Gene: SLCO1B1
Variant/haplotype: SLCO1B1*1, SLCO1B1*23, SLCO1B1*37
Drug(s): methotrexate
Phenotype category: Metabolism/PK
Significant: yes
Association: SLCO1B1 *23 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: Functional characterization of novel rare CYP2A6 variants and potential implications for clinical outcomes
Gene: CYP2A6
Variant/haplotype: rs140471703
Drug(s): nicotine
Phenotype category: Metabolism/PK
Significant: not stated
Association: Allele T is associated with decreased metabolism of nicotine as compared to allele C.
Notes: Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. This is the defining SNP of the CYP2A6*41 allele.
Article: Pharmacogenetic Interactions of Rifapentine plus Isoniazid with Efavirenz or Nevirapine
Gene: NAT2
Variant/haplotype: NAT2 slow acetylator
Drug(s): efavirenz
Phenotype category: Metabolism/PK
Significant: not stated
Association: NAT2 slow acetylator is associated with increased concentrations of efavirenz in people with HIV Infections.
Notes: NAT2 slow acetylators also had greater plasma efavirenz and nevirapine concentration increases from baseline to week 4, and greater decreases from baseline in clearance.
Article: Population pharmacokinetics of tacrolimus whole blood and peripheral blood mononuclear cell concentrations in stable kidney‐transplanted patients
Gene: NR1I2
Variant/haplotype: rs3814055
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: not stated
Association: Genotype TT is associated with increased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes CC + CT.
Notes: "Interestingly, patients homozygousfor the NR1I2-25 385T allele had 60.7% higher RC:PBMC than carriersof the C allele (Table 2 and Figure 4D). " RC:PBMC = ratio of tacrolimus whole blood to PBMCconcentration
Article: Fluoxetine inhibits the metabolism of tolterodine—pharmacokinetic implications and proposed clinical relevance
Gene: CYP2D6
Variant/haplotype: CYP2D6*1, CYP2D6*3, CYP2D6*4
Drug(s): tolterodine
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2D6 *3 + *4 are associated with decreased metabolism of tolterodine in women as compared to CYP2D6 *1/*1.
Notes: Study genotyped for *3 and *4 and grouped two non-functional alleles as PM. Study did not report exact genotype of patients.
Article: Genetic variability in the glucocorticoid pathway and treatment outcomes in hospitalized patients with COVID-19: a pilot study
Gene: NR3C1
Variant/haplotype: rs6198
Drug(s): dexamethasone
Phenotype category: Efficacy
Significant: yes
Association: Genotype CC is associated with increased time to response to dexamethasone in people with COVID-19 as compared to genotypes CT + TT.
Notes: "Homozygotes for polymorphic NR3C1 rs6198 allele needed significantly longer hospitalization (median 45 days) compared to heterozygotes (11 days) or non-polymorphic homozygotes (9 days) (p adj = 0.001). "
Article: Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants
Gene: CYP2D6
Variant/haplotype: rs3892097
Drug(s): amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline, opipramol
Phenotype category: Dosage, Efficacy
Significant: yes
Association: Genotype TT is associated with decreased dose of amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline or opipramol in people with Depression as compared to genotype CC.
Notes: (*4*4 vs. *1*1; this SNP was the only SNP assayed and this method could not detect *5.) Tricyclic antidepressants were grouped together for this analysis (45.9 % of patients were taking Amitriptyline; 8.2% Maprotiline;6.6% Clomipramine; 2.9% Nortriptyline;2.4% Imipramine;0.7% Dosulepin;0.3% Doxepin;0.2% Opipramol.  Mean TCA dose was significantly lower at the 3rd and 4th prescription (difference 0.11 DDD). Genotypes were not in Hardy-Weinberg equilibrium; frequency below is for a larger population that included patients treated with other antidepressants.
Article: Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients
Gene: IL10
Variant/haplotype: rs1800871
Drug(s): sufentanil
Phenotype category: Dosage
Significant: no
Association: Allele G is not associated with dose of sufentanil in people with Pain, Postoperative as compared to allele A.
Article: TNFα rs1800629 Polymorphism and Response to Anti-TNFα Treatment in Behçet Syndrome: Data from an Italian Cohort Study
Gene: TNF
Variant/haplotype: rs1800629
Drug(s): adalimumab, certolizumab pegol, golimumab, infliximab
Phenotype category: Efficacy
Significant: yes
Association: Genotype GG is associated with increased clinical benefit to adalimumab, certolizumab pegol, golimumab or infliximab in people with Behcet Syndrome as compared to genotype AG.
Notes: "We identified that 50/58 (86.2%) responders showed the GG genotype and 8/58 (13.8%) responder patients showed the GA genotype, while 9/16 (56.25%) non-responder patients showed the GG genotype and 7/16 (43.75%) the GA genotype"
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: rs398123217
Drug(s): migalastat
Phenotype category: Efficacy
Significant: not stated
Association: Allele C is associated with increased response to migalastat in people with Fabry Disease.
Notes: Patients carrying the C 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 Tyr216Cys.
Article: Polymorphisms of GLP-1 Receptor Gene and Response to GLP-1 Analogue in Patients with Poorly Controlled Type 2 Diabetes
Gene: GLP1R
Variant/haplotype: rs3765467
Drug(s): exenatide
Phenotype category: PD
Significant: no
Association: Genotypes AA + AG is associated with decreased response to exenatide in people with Diabetes Mellitus, Type 2 as compared to genotype GG.
Notes: Alleles complemented. "The effects of GLP1R genotypes on glucose, insulin, and C-peptide concentrations during the 75 g OGTT after GLP-1 analogue treatment are shown in Figure 3." Figure 3 shows CC with increasing insulin while CT/TT has lower increases.  "Quantitative trait loci analysis of GLP1R gene variation with clinical response of GLP1 analogue showed the missense rs3765467 and rs761386 significantly associated with changes in the standard deviation of plasma glucose (SDPG(baseline) - SDPG(treatment with GLP-1 analogue)) (P = 0.041 and 0.019, resp.). The reported P values became insignificant after multiple testing adjustments."
Article: The influence of CYP3A, PPARA, and POR genetic variants on the pharmacokinetics of tacrolimus and cyclosporine in renal transplant recipients
Gene: PPARA
Variant/haplotype: rs4823613
Drug(s): cyclosporine
Phenotype category: Metabolism/PK
Significant: no
Association: Allele G is not associated with decreased metabolism of cyclosporine in people with Kidney Transplantation as compared to allele A.
Notes: A single steady-state concentration of cyclosporine was collected for each patient 2-7 wks post-transplant and compared to dose of cyclosporine administered to patients at Oslo University Hospital. Reported concentrations are "steady-state dose-adjusted concentration" of cyclosporine. Steady-state is defined as at least 3 days after last dose adjustment for Tac and 4 days for cyclosporine.