rs10929251

This is a intron variant variant in the UGT1A10 gene.

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Research that mentions this SNP (1)

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The effect ofUGT1AandUGT2Bpolymorphisms on colorectal cancer risk: Haplotype associations and gene–environment interactions
AssociationN=1,800Andrea Y. Angstadt et al.(2014)· Genes, Chromosomes and Cancer

This case-control study of over 1,800 Caucasian subjects examined genetic variation in UGT1A and UGT2B genes for colorectal cancer (CRC) risk. UGT1A haplotypes were significantly associated with CRC risk: the T-G haplotype in UGT1A10 (rs17864678, rs10929251) decreased proximal and distal colon cancer risk (OR = 0.28-0.32), while the C-T-G haplotype in the UGT1A shared exons (rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56). In UGT2B15, a haplotype containing the functional variant rs4148269 (K523T, c.C1568A) and rs6837575 increased rectal cancer risk (OR = 2.57 overall, OR = 3.08 in females). An interaction between high NSAID use and the UGT1A A-G-T haplotype (rs6717546, rs1500482, rs7586006) decreased CRC risk.

Traits studied:Colon cancerColorectal cancerDistal colon cancerProximal colon cancerRectal cancer
PubMedDOIMetascience Observatory

About UGT1A10

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]

View all UGT1A10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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