rs2445762

This is a downstream gene variant variant in the CYP19A1 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

estradiol measurement

Chen Z et al. “Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.” Journal of Medical Genetics 50(12):794-801 (2013)
Allele C
OR 0.11
p 8.0e-28
N 1,999
Large GWAS
East Asian
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Research that mentions this SNP (1)

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Association of variants in estrogen‐related pathway genes with prostate cancer risk
AssociationN=2,570Sarah K. Holt et al.(2013)· The Prostate

Population-based case-control study of 1,304 prostate cancer cases and 1,266 controls examining 73 SNPs in five estrogen pathway genes (ESR1, ESR2, CYP19A1, CYP1A1, CYP1B1). Only CYP1B1 rs1056836 (Val158Met) retained significance after multiple comparisons adjustment (OR=1.22, 95% CI 1.02-1.46, p=0.004). ESR1, CYP1A1, and CYP1B1 variants showed nominal associations with prostate cancer risk, and ESR2/CYP19A1 variants associated with tumor aggressiveness, though these did not persist after correction.

Traits studied:Aggressive prostate cancerGleason scoreProstate cancerProstate cancer riskTumor stage
PubMedDOIMetascience Observatory

About CYP19A1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

View all CYP19A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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