Rs2740574
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs2740574 |
| hapmap | rs2740574 |
| hgdp | rs2740574 |
| ensembl | rs2740574 |
| gopubmed | rs2740574 |
| scholar | rs2740574 |
| rs2740574 | |
| pharmgkb | rs2740574 |
| hgvbaseg2p | rs2740574 |
| medrefsnp | rs2740574 |
| 23andMe | rs2740574 |
| SNP Nexus |
| Gene | CYP3A4 |
| Chromosome | 7 |
| Orientation | minus |
| Position | 99220031 |
| Genotype | Effect |
|---|---|
| rs2740574(A;A) | normal |
| rs2740574(A;G) | carrier of one CYP3A4*1B allele |
| rs2740574(G;G) | 2.5x increased risk for prostate or ovarian cancer; CYP3A4*1B homozygote |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs2740574(A;A) | 00 | normal |
| Rs2740574(A;G) | carrier of one CYP3A4*1B allele | |
| Rs2740574(G;G) | 22 | 2.5x increased risk for prostate or ovarian cancer; CYP3A4*1B homozygote |
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]
| ? | (A;A) (A;G) (G;G) |
|---|---|
|
| |
[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
| PharmGKB | PA161145181 |
| Name | CYP3A4:-392A>G, CYP3A4*1B |
| Annotation | Defining variant for CYP3A4*1B; well studied, conflicting results on effect on gene transcription, no clear consensus on its significance for drug disposition, may be assocated with an increased risk of developing endometrial cancer after tamoxifen treatment. |
| Gene | CYP3A4, CYP3A |
| Featue | Intron, Intron |
| Evidence | Web Resource:http://www.pharmgkb.org/search/annotatedGene/cyp3a4/variant.jsp |
| Drugs | tamoxifen |
| Diseases | Endometrial Neoplasms |
| Curation Level | In-Depth |
