shlokn/autogkb huggingface dataset:
Article: Gender‐specific association between preproendothelin‐1 genotype and reduction of systolic blood pressure during antihypertensive treatment‐‐‐results from the Swedish irbesartan left ventricular hypertrophy investigation versus atenolol (SILVHIA)
Gene: EDN1
Variant/haplotype: rs5370
Drug(s): atenolol, irbesartan
Phenotype category: Efficacy
Significant: no
Association: Genotype GT is not associated with response to atenolol and irbesartan in men with Essential hypertension as compared to genotype GG.
Notes: No significant difference in the change in diastolic blood pressure (DBP) between genotypes was seen, between baseline and 12 weeks. p-value was adjusted for age, dose, and systolic blood pressure, DBP, and left ventricular mass index (LVMI) at baseline.
Article: CYP2B6 Variants and Plasma Efavirenz Concentrations during Antiretroviral Therapy in Port-au-Prince, Haiti
Gene: CYP2B6
Variant/haplotype: rs3745274
Drug(s): efavirenz
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype TT (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype GG (assigned as normal metabolizer phenotype) .
Notes: As determined by significantly higher efavirenz plasma levels. Significant after Bonferroni correction for multiple comparisons.
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: APOA4
Variant/haplotype: rs5092
Drug(s): fenofibrate
Phenotype category: Efficacy
Significant: no
Association: Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT.
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. Please note alleles have been complemented to the plus chromosomal strand.
Article: A PHARMACOGENETIC STUDY OF ALDEHYDE OXIDASE I IN PATIENTS TREATED WITH XK469
Gene: AOX1
Variant/haplotype: rs10931910
Drug(s): XK469
Phenotype category: Metabolism/PK
Significant: yes
Association: Allele G is associated with decreased clearance of XK469 in people with Neoplasms as compared to allele A.
Notes: in patients with solid tumors
Article: 5-HTR1A and 5-HTR2A genetic polymorphisms and SSRI antidepressant response in depressive Chinese patients
Gene: HTR2A
Variant/haplotype: rs17289304
Drug(s): citalopram, fluoxetine, paroxetine, sertraline
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to citalopram, fluoxetine, paroxetine or sertraline in people with Depressive Disorder, Major as compared to allele G.
Notes: Response/remission measured using HAMD.
Article: Human Polymorphisms in the Glutathione Transferase Zeta 1/Maleylacetoacetate Isomerase Gene Influence the Toxicokinetics of Dichloroacetate
Gene: GSTZ1, POMT2
Variant/haplotype: rs7975
Drug(s): dichloroacetic acid
Phenotype category: Other, Metabolism/PK
Significant: yes
Association: Allele G is associated with increased clearance of dichloroacetic acid in healthy individuals.
Notes: The statement above  is meant for a haplotype rather than for the allele.  For the various possible haplotype combinations involving rs7975,rs7972,rs1046428, the most rapid clearance was observed for subjects having at least one "wild-type" allele (G for rs7975,G for rs7972, C  for rs1046428.  Rate was 2.2 +/- 0.7 vs 0.73 +/- 0.84 mL/min, and the very highest rate was seen in homozygous "wild-type".
Article: Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol
Gene: GREM2
Variant/haplotype: rs1934341
Drug(s): allopurinol
Phenotype category: Efficacy
Significant: yes
Association: Allele T is associated with increased response to allopurinol.
Notes: Response to allopurinol was determined by whether serum uric acid concentrations decreased following allopurinol treatment. This SNP is in strong LD with rs77567654.
Article: Population Pharmacokinetic Meta-Analysis of Vortioxetine in Healthy Individuals
Gene: CYP2D6
Variant/haplotype: CYP2D6 poor metabolizer
Drug(s): vortioxetine
Phenotype category: Metabolism/PK
Significant: not stated
Association: CYP2D6 poor metabolizer is associated with decreased clearance of vortioxetine in healthy individuals as compared to CYP2D6 normal metabolizer.
Notes: CYP2D6-inferred metabolic status was shown to have a significant impact on CL/F, where extensive metabolizers in general had 1.9 times the CL/F of poor metabolizers. The mean group CL/F values for the four different categories of CYP2D6-inferred metabolic status were 53 L/hr (UM), 34 L/hr (EM), 27 L/hr (IM) and 18 L/hr (PM). Please note, no specific alleles or genotypes for CYP2D6 were reported. The article stated the following categorization of CYP2D6 phenotypes: 'Alleles with full functionality were assigned a gene dose of 1 and alleles with reduced functionality a value of 0.5, while alleles with no functionality were assigned a value of zero. If the sum of the gene dose for the alleles was zero, the inferred metabolic status was categorized as poor metabolizer (PM), if the sum was 0.5 or 1, the category was intermediate metabolizer (IM), if the sum was 1.5 or 2, the category was extensive metabolizer (EM) and for a sum over 2, the category was set to ultra metabolizer (UM)'.
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: rs12885300
Drug(s): levothyroxine
Phenotype category: Dosage
Significant: no
Association: Allele T is not associated with dose of levothyroxine in people with Thyroid Neoplasms as compared to allele C.
Notes: This SNP was not associated with dose in univariate  regression.
Article: Influence of Vitamin D-Related Gene Polymorphisms (CYP27B and VDR) on the Response to Interferon/Ribavirin Therapy in Chronic Hepatitis C
Gene: CYP27B1
Variant/haplotype: rs10877012
Drug(s): peginterferon alfa-2b, ribavirin
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic.
Notes: This genotype is not significantly associated with sustained virological response (SVR).
Article: The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response
Gene: POU2F2
Variant/haplotype: rs3823036
Drug(s): platinum
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.
Notes: 26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.
Article: Polymorphisms in drug-metabolizing enzymes and steady-state exemestane concentration in post-menopausal patients with breast cancer
Gene: CYP1A1
Variant/haplotype: rs2606345
Drug(s): exemestane
Phenotype category: Metabolism/PK
Significant: no
Association: Genotypes AA + AC 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: The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response
Gene: TMEM205
Variant/haplotype: rs172731
Drug(s): platinum
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.
Notes: 26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.
Article: Prediction Formulas for Individual Opioid Analgesic Requirements Based on Genetic Polymorphism Analyses
Gene: OPRM1
Variant/haplotype: rs9384179
Drug(s): fentanyl
Phenotype category: Dosage, Efficacy
Significant: yes
Association: Genotype AA is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AG + GG.
Notes: A formula was developed to predict individual opioid use during the first 24-h post-operative period for patients who underwent craniofacial surgery. The post-operative period R squared values were higher when genotype information was included. In the first group fentanyl was administered by IV, on demand, with a bolus dose of 20 micrograms and a 10 minute lockout period 24-h post-op.
Article: Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia
Gene: MTHFR
Variant/haplotype: rs1801133
Drug(s): methotrexate
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotype AA is associated with increased concentrations of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG.
Notes: Please note that alleles have been complemented to the positive strand. Patients with the AG genotype did not have significantly different methotrexate plasma levels compared to those with the GG genotype.
Article: Effects of Cytochrome P450 2C19 and Paraoxonase 1 Polymorphisms on Antiplatelet Response to Clopidogrel Therapy in Patients with Coronary Artery Disease
Gene: CYP2C19
Variant/haplotype: CYP2C19*1, CYP2C19*3
Drug(s): clopidogrel
Phenotype category: Efficacy
Significant: yes
Association: CYP2C19 *3 is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1.
Article: UGT1A6 and UGT2B15 Polymorphisms and Acetaminophen Conjugation in Response to a Randomized, Controlled Diet of Select Fruits and Vegetables
Gene: UGT2B15
Variant/haplotype: UGT2B15*1, UGT2B15*2
Drug(s): acetaminophen
Phenotype category: Metabolism/PK
Significant: yes
Association: UGT2B15 *2 is associated with decreased metabolism of acetaminophen in healthy individuals as compared to UGT2B15 *1.
Notes: Acetaminophen gluc/acetaminophen ratio decreased in a dose-dependent manner from *1/*1 subjects to *1/*2 and *2/*2 subjects. Please note UGT2B15 was genotyped with rs1902023.
Article: IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-α plus ribavirin therapy in Taiwanese chronic HCV infection
Gene: IFNL3, IFNL4
Variant/haplotype: rs12979860
Drug(s): peginterferon alfa-2b, ribavirin
Phenotype category: Efficacy
Significant: yes
Association: Genotypes CT + TT is associated with decreased response to peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotype CC.
Notes: This genotype has decreased association with sustained virological response (SVR).
Article: The Pharmacogenetics of Tacrolimus in Corticosteroid-Sparse Pediatric and Adult Kidney Transplant Recipients
Gene: CYP3A4
Variant/haplotype: CYP3A4*1, CYP3A4*22
Drug(s): tacrolimus
Phenotype category: Metabolism/PK
Significant: no
Association: CYP3A4 *1/*1 is not associated with trough concentration of tacrolimus in children with Kidney Transplantation as compared to CYP3A4 *1/*22.
Article: The ability of plasma cotinine to predict nicotine and carcinogen exposure is altered by differences in CYP2A6: the influence of genetics, race and sex
Gene: CYP2A6
Variant/haplotype: CYP2A6 low activity
Drug(s): cotinine
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2A6 low activity is associated with increased concentrations of cotinine as compared to CYP2A6 high activity.
Notes: in non-smokers. "Reduced CYP2A6 activity altered cotinine formation less than cotinine removal resulting in ratios of formation to removal of 1.31 and 1.12 in CYP2A6 reduced and normal metabolizers (P = 0.01), or 1.39 and 1.12 in males and females (P = 0.001), suggesting an overestimation of tobacco exposure in slower metabolizers." Reduced metabolizers were defined as subjects with one or two copies of *2,*4, *7,*9,*10,*12,*17,*35.
Article: Is It Time for Systematic Voriconazole Pharmacogenomic Investigation for Central Nervous System Aspergillosis?
Gene: CYP2C19
Variant/haplotype: CYP2C19*17
Drug(s): voriconazole
Phenotype category: Efficacy
Significant: not stated
Association: CYP2C19 *17/*17 is associated with decreased response to voriconazole in people with Mycoses.
Notes: Case report. A 75-year-old woman developed central nervous system aspergillosis. She was treated with therapeutic drug monitoring-guided voriconazole therapy. Optimal trough concentrations were difficult to reach despite very high doses of voriconazole. The patient was then found to be homozygous for the CYP2C19*17 variant. Treatment was changed to isavuconazole. Four months after isavuconazole introduction, clinical outcome was favorable. Authors state that this CYP2C19 mutation was "partially responsible for the therapeutic failure of voriconazole".
Article: Genome-Wide Association Analysis in Asthma Subjects Identifies SPATS2L as a Novel Bronchodilator Response Gene
Gene: SPATS2L
Variant/haplotype: rs295137
Drug(s): salbutamol
Phenotype category: Efficacy
Significant: no
Association: Genotype TT is associated with increased response to salbutamol in people with Asthma as compared to genotypes CC + CT.
Notes: Median Bronchodilator response was 16.0 (inter-quartile range [6.2, 32.4]) for TT, 10.9(inter-quartile range [4.1,21.7]) for CC + CT.  Association did not reach significance after Bonferroni correction, but authors followed up on the association and found siRNA knockdown evidence for this being a valid result. [stat_test:linear regression].
Article: TET2 and CSMD1genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives
Gene: CSMD1
Variant/haplotype: rs11993031
Drug(s): hydrochlorothiazide
Phenotype category: Efficacy
Significant: no
Association: Allele T is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A.
Notes: The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment.
Article: A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose
Gene: VKORC1
Variant/haplotype: rs9923231
Drug(s): warfarin
Phenotype category: Dosage
Significant: yes
Association: Allele T is associated with decreased dose of warfarin as compared to allele C.
Article: The Association of Transporter Genes Polymorphisms and Lung Cancer Chemotherapy Response
Gene: LRP1
Variant/haplotype: rs7204252
Drug(s): platinum
Phenotype category: Efficacy
Significant: no
Association: Allele T is not associated with response to platinum in people with Lung Neoplasms as compared to allele C.
Notes: 26 SNPs were selected which satisfied the following criteria: 1) SNPs were from HapMap Project Phase II of the Han Chinese population 2) were haplotype tagger SNPs 3) SNP minor allele frequency was higher than 5% in Han Chinese 4) the pairwise linkage disequilibrium correlation coefficient (r-squared) was greater than 0.8. After Bonferroni corrections no SNPs remained significantly associated with platinum drug efficacy.
Article: Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration
Gene: CCT3
Variant/haplotype: rs12138564
Drug(s): bevacizumab, ranibizumab
Phenotype category: Efficacy
Significant: no
Association: Allele T is associated with increased response to bevacizumab and ranibizumab in people with Macular Degeneration as compared to allele G.
Notes: GWAS in discovery and replication cohort the T allele was nominally associated with improved response (as assessed by improvements in visual acuity (VA)) but only nominally after multiple testing correction. The GT genotype was associated with greater improvement in VA as compared to the GG genotype (P = .008), but the TT was associated with the largest improvement in VA (P = .002).
Article: Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment
Gene: OPRM1
Variant/haplotype: rs1799972
Drug(s): morphine
Phenotype category: Dosage, Efficacy
Significant: no
Association: Allele T is not associated with dose of morphine in people with Pain as compared to allele C.
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: Pharmacokinetic profiles of significant adverse events with crizotinib in Japanese patients with ABCB1 polymorphism
Gene: ABCB1
Variant/haplotype: rs1128503
Drug(s): crizotinib
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype AA is associated with increased exposure to crizotinib in people with.
Notes: There was only one individual who was AA at all three locations that define *2 (rs1128503, rs2032582 and rs1045642). Individuals who were AA at one location (n=3) also had slightly increased exposure compared to "wild type or heterozygotes" (n=4). Increased exposure was significantly associated with toxicity. (alleles complemented to plus chromosomal strand)
Article: RRM1 and RRM2 pharmacogenetics: association with phenotypes in HapMap cell lines and acute myeloid leukemia patients
Gene: RRM1
Variant/haplotype: rs1042919
Drug(s): cladribine, cytarabine
Phenotype category: Efficacy
Significant: yes
Association: Genotype AT is associated with decreased response to cladribine and cytarabine in children with Leukemia, Myeloid, Acute as compared to genotype AA.
Notes: The AT genotype was associated with lower intracellular cytarabine levels in leukemic blasts at day 1 and 2 of therapy, and poor event-free survival. Risk of relapse was not significantly different. No multiple testing adjustments were performed: 7 SNPs were investigated.
Article: ASSOCIATIONS OF ABCB1 3435C>T AND IL-10 -1082G>A POLYMORPHISMS WITH LONG-TERM SIROLIMUS DOSE REQUIREMENTS IN RENAL TRANSPLANT PATIENTS
Gene: ABCB1
Variant/haplotype: rs1045642
Drug(s): sirolimus
Phenotype category: Metabolism/PK
Significant: yes
Association: Genotypes AA + AG are associated with increased dose-adjusted trough concentrations of sirolimus in people with Kidney Transplantation as compared to genotype GG.
Notes: Patients with the AA or AG genotype had a 48% higher mean sirolimus log-transformed dose-adjusted trough concentrations (C/D) as compared to those with the GG genotype. Multivariate analysis. Please note that alleles have been complemented to the plus chromosomal strand.
Article: Enantiospecific Pharmacogenomics of Fluvastatin
Gene: CYP2C9
Variant/haplotype: CYP2C9*1, CYP2C9*3
Drug(s): fluvastatin
Phenotype category: Metabolism/PK
Significant: yes
Association: CYP2C9 *3 is associated with increased concentrations of fluvastatin in healthy individuals as compared to CYP2C9 *1/*1.
Notes: This variant is in complete LD with rs77760615. This variant is significantly associated with increased area under the plasma concentration-time curve (AUC) of both 3R,5S-fluvastatin and 3S,5R-fluvastatin and total fluvastatin.
Article: The International SSRI Pharmacogenomics Consortium (ISPC): a genome-wide association study of antidepressant treatment response
Variant/haplotype: rs9328202
Drug(s): Selective serotonin reuptake inhibitors
Phenotype category: Efficacy
Significant: no
Association: Allele A is not associated with response to Selective serotonin reuptake inhibitors in people with Depressive Disorder, Major as compared to allele C.
Notes: The allele did not reach genome wide significance in the discovery or replication cohorts. GWA analyses were performed for two phenotypes: ‘% change in HRSD-17 score’ (% delta HRSD defined as the change in HRSD-17 score divided by the baseline score) and ‘response’ (defined as greater than or equal to 50% reduction in HRSD-17 score from baseline to 4-week visit).
Article: Association of CTH variant with sinusoidal obstruction syndrome in children receiving intravenous busulfan and cyclophosphamide before hematopoietic stem cell transplantation
Gene: CTH
Variant/haplotype: rs648743
Drug(s): busulfan
Phenotype category: Metabolism/PK
Significant: no
Association: Genotype TT is not associated with clearance of busulfan in children with Hematopoietic stem cell transplantation as compared to genotypes CC + CT.
Article: Attempted validation of 44 reported SNPs associated with tacrolimus troughs in a cohort of kidney allograft recipients
Gene: COMT
Variant/haplotype: rs2239393
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.
Article: Functional genetic variation in the Rev-Erbα pathway and lithium response in the treatment of bipolar disorder
Gene: GSK3B
Variant/haplotype: rs6438552
Drug(s): lithium
Phenotype category: Efficacy
Significant: yes
Association: Genotype GG is associated with increased response to lithium in people with Bipolar Disorder.
Notes: This result is for the combination of GG at this SNP with rs2071427 TT.  People with this genotype combination had a 75% chance of being in the Li-responsive group. People with rs2071427 CC/rs6438552 AA had a 44% response rate.  Those with 2 or 3 favorable alleles had responses on a gradient between these two results.
Article: Should We Use N-Acetyltransferase Type 2 Genotyping To Personalize Isoniazid Doses?
Gene: NAT2
Variant/haplotype: NAT2*4
Drug(s): isoniazid
Phenotype category: Metabolism/PK
Significant: not stated
Association: NAT2 *4 is associated with increased clearance of isoniazid in healthy individuals.
Notes: 88% of overall variability in isoniazid clearance was accounted for by the number of NAT2*4 alleles.
Article: An integrated pharmacokinetic/pharmacogenomic analysis of ABCB1 and SLCO1B1 polymorphisms on edoxaban exposure
Gene: SLCO1B1
Variant/haplotype: rs4149056
Drug(s): edoxaban
Phenotype category: Metabolism/PK
Significant: no
Association: Genotypes CC + CT is not associated with exposure to edoxaban in healthy individuals as compared to genotype TT.
Notes: No significant difference in total plasma exposure (AUCinf), peak plasma exposure (Cmax), trough concentrations (C24), plasma exposure from the time of dosing to the last measurable concentration (AUClast), or plasma exposure up to 24 hours after dosing (AUC0-24) were seen between the genotype groups. This indicates that this SNP "does not influence edoxaban exposure". However, the authors state that exposure to the M4 metabolite is elevated in individuals with the CC or CT genotype as compared to the TT genotype, though they do not provide any statistical information, and state that it does not increase exposure in "a clinically meaningful way".