rs7439366

This is a variant in the UGT2B7 gene that changes a tyrosine to an histidine.

ClinVar annotation

Drug Response
1 submitter

Tramadol response

View on ClinVar →

Research that mentions this SNP (2)

Association between sex hormones regulation‐related SNP rs12233719 and lung cancer risk among never‐smoking Chinese women
AssociationN=1,349Ying Qian et al.(2021)· Cancer Medicine

A two-stage case-control study in Chinese women examined associations between SNPs in sex hormone regulation genes and never-smoking lung cancer risk. SNP rs12233719 (G>T) in UGT2B7 was associated with increased NSCLC risk, with adjusted OR = 1.58 (95% CI: 1.15-2.16) in the training set and 1.49 (95% CI: 1.02-2.18) in the validation set; combined OR = 1.54 (95% CI: 1.21-1.96). UGT2B7 was upregulated in tumor tissues and associated with poor prognosis.

Traits studied:Lung adenocarcinomaNon-small cell lung cancer (NSCLC)
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

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.

Community Wiki

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

Comments

Sign in to join the discussion.

Loading comments…