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rs2740574

From SNPedia

Orientationminus
Stabilizedminus
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
Chromosome7
Position99784473
GeneCYP3A4
is asnp
is mentioned by
dbSNPrs2740574
ebirs2740574
HLIrs2740574
Exacrs2740574
Varsomers2740574
Maprs2740574
PheGenIrs2740574
hapmaprs2740574
1000 genomesrs2740574
hgdprs2740574
ensemblrs2740574
gopubmedrs2740574
geneviewrs2740574
scholarrs2740574
googlers2740574
pharmgkbrs2740574
gwascentralrs2740574
openSNPrs2740574
23andMers2740574
23andMe allrs2740574
SNP Nexus

SNPshotrs2740574
SNPdbers2740574
MSV3drs2740574
GWAS Ctlgrs2740574
GMAF0.2011
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.


GET Evidence
rs2740574
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.757812
summary



[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


ClinVar
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 PharmGKB
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