rs4525119

This is a upstream gene variant variant in the AKR1C3 gene.

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Research that mentions this SNP (1)

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Identification of novel epithelial ovarian cancer loci in women of African ancestry
AssociationN=1,990Ani Manichaikul et al.(2020)· International Journal of Cancer

Genome-wide association study of epithelial ovarian cancer in 755 African ancestry cases and 1,235 controls identified 4 novel loci associated with overall EOC (rs4525119 in AKR1C3 p=4.9×10⁻⁷, rs7643459 in LOC101927394 p=8.4×10⁻⁷, rs4286604 near UGT2A2 p=8.5×10⁻⁷, rs142091544 near WWC1 p=9.4×10⁻⁷) and 6 loci for high-grade serous ovarian carcinoma (rs37792 near FST p=6.0×10⁻⁸, rs57403204 near MAGEC1 p=1.7×10⁻⁷, rs79079890 in LOC105376360 p=3.0×10⁻⁷, rs66459581 near PRPSAP1 p=5.1×10⁻⁷, rs116046250 in GABRG3 p=8.7×10⁻⁷, rs192876988 near GK2 p=9.2×10⁻⁷). The GK2 SNP showed inverse association with EOC in European women (p=0.002) and eQTL evidence for decreased GK2 expression (p=0.004). A European ancestry-derived polygenic risk score showed positive association with EOC in African ancestry women (OR=1.20 per SD, p=4.46×10⁻⁹).

Traits studied:ER negative breast cancerER positive breast cancerEpithelial ovarian cancerHigh-grade serous ovarian carcinomaProstate cancer
PubMedDOIMetascience Observatory

About AKR1C3

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

View all AKR1C3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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