rs10017134
This is a intron variant variant in the UGT2A1 gene.
▶Research that mentions this SNP (1)
▶Evaluation of vitamin D biosynthesis and pathway target genes reveals UGT2A1/2 and EGFR polymorphisms associated with epithelial ovarian cancer in African American WomenAssociationN=1,990Delores J. Grant et al.(2019)· Cancer Medicine
A candidate gene study of vitamin D biosynthesis and pathway genes in 755 African American epithelial ovarian cancer (EOC) cases and 1,235 controls identified significant associations with UGT2A1/2 SNP rs10017134 (OR=1.4, P=1.2×10⁻⁶) and EGFR SNP rs114972508 (OR=2.3, P=1.6×10⁻⁵) for high-grade serous ovarian cancer. These findings suggest EGFR and UGT2A1/2 variants may increase EOC susceptibility in African American women.
About UGT2A1
The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 infection. [provided by RefSeq, Jan 2022]
View all UGT2A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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