rs7668258
This is a regulatory region variant variant in the UGT2B7 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶The effect ofUGT1AandUGT2Bpolymorphisms on colorectal cancer risk: Haplotype associations and gene–environment interactionsAssociationN=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.
About UGT2B7
The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
View all UGT2B7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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