|(A;G)||carrier of one CYP3A4*1B allele|
|(G;G)||2||2.5x increased risk for prostate or ovarian cancer; CYP3A4*1B homozygote|
A pooled study (1,400+ samples) along with a replication study conducted by members of the Ovarian Cancer Association Consortium found a 2.5-2.8x increased risk for ovarian cancer for rs2740574(G;G) individuals (CI: 1.2-6.5, p=0.017). The authors note that CYP3A4 encodes a key enzyme in estrogen metabolism and which may be linked to ovarian carcinogenesis.[PMID 19127255]
[PMID 19921206] Association of polymorphisms in CYP19A1 and CYP3A4 genes with lower urinary tract symptoms, prostate volume, uroflow and PSA in a population-based sample
[PMID 20617557] Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy
[PMID 20685352] Functional polymorphisms in the CYP3A4, CYP3A5, and CYP21A2 genes in the risk for hypertension in pregnancy
[PMID 21346221] Risk of acute promyelocytic leukemia in multiple sclerosis: Coding variants of DNA repair genes
[PMID 22015057] Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study
[PMID 22120734] Identification of pharmacogenetic predictors of lipid-lowering response to atorvastatin in Chilean subjects with hypercholesterolemia
[PMID 16172230] Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.
[PMID 17615053] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.
[PMID 18163429] Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF-1, and IGFBP-3 and prostate cancer risk in African-American men: the Flint Men's Health Study.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18566991] Joint effects of inflammation and androgen metabolism on prostate cancer severity.
[PMID 18632753] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19076156] Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa.
[PMID 19154420] The impact of cytokines on the expression of drug transporters, cytochrome P450 enzymes and chemokine receptors in human PBMC.
[PMID 19239339] Associations between CYP2B6 polymorphisms and pharmacokinetics after a single dose of nevirapine or efavirenz in African americans.
[PMID 19287484] Clique-finding for heterogeneity and multidimensionality in biomarker epidemiology research: the CHAMBER algorithm.
[PMID 19679043] African American-preponderant single nucleotide polymorphisms (SNPs) and risk of breast cancer.
[PMID 20021678] Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study.
[PMID 20170205] Effect of CYP3A and ABCB1 single nucleotide polymorphisms on the pharmacokinetics and pharmacodynamics of calcineurin inhibitors: Part I.
[PMID 20214406] Effect of CYP3A and ABCB1 single nucleotide polymorphisms on the pharmacokinetics and pharmacodynamics of calcineurin inhibitors: Part II.
[PMID 20354687] Explaining variability in ciclosporin exposure in adult kidney transplant recipients.
[PMID 20389299] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.
[PMID 20459744] Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.
[PMID 21480817] Pharmacogenetics of tacrolimus after renal transplantation: analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes.
[PMID 22466345] Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 23091730] Androgen Metabolism Gene Polymorphisms, Associations with Prostate Cancer Risk and Pathological Characteristics: A Comparative Analysis between South African and Senegalese Men
[PMID 23146479] Effect of CYP3A5, CYP3A4, and ABCB1 Genotypes as Determinants of Tacrolimus Dose and Clinical Outcomes After Heart Transplantation
[PMID 23129512] Polymorphisms in CYP17 and CYP3A4 and prostate cancer in men of African descent
[PMID 23130019] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 23179402] CYP3A4*1B polymorphism and cancer risk: a HuGE review and meta-analysis.
[PMID 23501331] Effects of atorvastatin on CYP3A4 and CYP3A5 mRNA expression in mononuclear cells and CYP3A activity in hypercholeresterolemic patients.
[PMID 24924803] The PXR rs7643645 Polymorphism Is Associated with the Risk of Higher Prostate-Specific Antigen Levels in Prostate Cancer Patients
[PMID 25217544] Fatal Methadone Toxicity: Potential Role of CYP3A4 Genetic Polymorphism
|Disease||CYP3A4 PROMOTER POLYMORPHISM Cyp3a4-v tacrolimus response - Dosage|
|CLNDBN||CYP3A4 PROMOTER POLYMORPHISM Cyp3a4-v tacrolimus response - Dosage|
|CLNSRC||OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB|
|CLNACC||RCV000018417.3, RCV000018418.24, RCV000211361.1,|
[PMID 25992585] Polymorphisms in CYP1B1, CYP3A5, GSTT1, and SULT1A1 Are Associated with Early Age Acute Leukemia