rs2740574
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 99784473 |
| Gene | CYP3A4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2740574 |
| dbSNP (classic) | rs2740574 |
| ClinGen | rs2740574 |
| ebi | rs2740574 |
| HLI | rs2740574 |
| Exac | rs2740574 |
| Gnomad | rs2740574 |
| Varsome | rs2740574 |
| LitVar | rs2740574 |
| Map | rs2740574 |
| PheGenI | rs2740574 |
| Biobank | rs2740574 |
| 1000 genomes | rs2740574 |
| hgdp | rs2740574 |
| ensembl | rs2740574 |
| geneview | rs2740574 |
| scholar | rs2740574 |
| rs2740574 | |
| pharmgkb | rs2740574 |
| gwascentral | rs2740574 |
| openSNP | rs2740574 |
| 23andMe | rs2740574 |
| SNPshot | rs2740574 |
| SNPdbe | rs2740574 |
| MSV3d | rs2740574 |
| GWAS Ctlg | rs2740574 |
| GMAF | 0.2011 |
| Max Magnitude | 2 |
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 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.
[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
| 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 |
| CLNACC | RCV000018417.3, RCV000018418.24, RCV000211361.1, |
[PMID 25992585] 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.
