rs4148269

This is a protein-altering variant in the UGT2B15 gene.

▶

Research that mentions this SNP (1)

▶
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 UGT2B15

This gene encodes a glycosyltransferase that is invovled in the metabolism and elimination of toxic compounts, both endogenous and of xenobiotic origin. This gene plays a role in the regulation of estrogens and androgens. This locus is present in a cluster of similar genes and pseudogenes on chromosome 4. [provided by RefSeq, Aug 2016]

View all UGT2B15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…