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From SNPedia

Geno Mag Summary
(A;A) 0 normal
(A;G) carrier of one CYP3A4*1B allele
(G;G) 2 2.5x increased risk for prostate or ovarian cancer; CYP3A4*1B homozygote
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs2740574
1000 genomesrs2740574
GWAS Ctlgrs2740574
Max Magnitude2

The rs2740574(G) allele encodes a variant form of CYP3A4 known as CYP3A4*1B.

rs2740574(G) alleles are associated with an ~10 fold higher risk of aggressive prostate cancer in African American males. [PMID 16414488, OMIM [1]]

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 19127255OA-icon.png]

[PMID 19921206OA-icon.png] 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 17615053OA-icon.png] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.

[PMID 18163429OA-icon.png] 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 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 18566991OA-icon.png] Joint effects of inflammation and androgen metabolism on prostate cancer severity.

[PMID 18632753OA-icon.png] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 19076156OA-icon.png] Polymorphisms of drug-metabolizing enzymes (GST, CYP2B6 and CYP3A) affect the pharmacokinetics of thiotepa and tepa.

[PMID 19154420OA-icon.png] The impact of cytokines on the expression of drug transporters, cytochrome P450 enzymes and chemokine receptors in human PBMC.

[PMID 19239339OA-icon.png] Associations between CYP2B6 polymorphisms and pharmacokinetics after a single dose of nevirapine or efavirenz in African americans.

[PMID 19287484OA-icon.png] Clique-finding for heterogeneity and multidimensionality in biomarker epidemiology research: the CHAMBER algorithm.

[PMID 19679043OA-icon.png] African American-preponderant single nucleotide polymorphisms (SNPs) and risk of breast cancer.

[PMID 20021678OA-icon.png] 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 20354687OA-icon.png] Explaining variability in ciclosporin exposure in adult kidney transplant recipients.

[PMID 20389299OA-icon.png] Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.

[PMID 20459744OA-icon.png] 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 22466345OA-icon.png] Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women.

[PMID 23091730OA-icon.png] 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 23129512OA-icon.png] Polymorphisms in CYP17 and CYP3A4 and prostate cancer in men of African descent

[PMID 23130019OA-icon.png] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.

[PMID 23175176OA-icon.png] 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 24924803OA-icon.png] The PXR rs7643645 Polymorphism Is Associated with the Risk of Higher Prostate-Specific Antigen Levels in Prostate Cancer Patients

[PMID 25217544OA-icon.png] Fatal Methadone Toxicity: Potential Role of CYP3A4 Genetic Polymorphism

Risk Rs2740574(A;A)
Alt Rs2740574(A;A)
Reference Rs2740574(G;G)
Significance Drug-response
Disease CYP3A4 PROMOTER POLYMORPHISM Cyp3a4-v tacrolimus response - Dosage
Variation info
Gene CYP3A4
CLNDBN CYP3A4 PROMOTER POLYMORPHISM Cyp3a4-v tacrolimus response - Dosage
Reversed 1
HGVS NC_000007.13:g.99382096C>T
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation
CLNACC RCV000018417.3, RCV000018418.24, RCV000211361.1,

[PMID 25992585OA-icon.png] Polymorphisms in CYP1B1, CYP3A5, GSTT1, and SULT1A1 Are Associated with Early Age Acute Leukemia

[PMID 28343093] Influence of genetic variants of CYP2D6, CYP2C9, CYP2C19 and CYP3A4 on antiepileptic drug metabolism in pediatric patients with refractory epilepsy.

[PMID 30132432] Vitamin D receptor genotype influences risk of upper respiratory infection.