rs2129785
This is a intron variant variant in the BLMH gene.
▶Research that mentions this SNP (1)
▶Association, interaction, and replication analysis of genes encoding serotonin transporter and 5-HT3 receptor subunits A and B in alcohol dependenceAssociationN=6,899Chamindi Seneviratne et al.(2013)· Human Genetics
This case-control association study examined 22 SNPs in HTR3A, HTR3B, and SLC6A4 genes in relation to alcohol dependence in 500 cases and 280 controls of European descent. Low-frequency variants rs33940208 (HTR3A) and rs2276305 (HTR3B) showed protective effects (OR=0.212, P=0.004 and OR=0.261, P=0.016 respectively). Gene-by-gene interaction analyses revealed significant interactive effects among SLC6A4, HTR3A, and HTR3B variants on alcohol dependence risk (OR=2.71-3.095, P<0.001-2×10⁻⁴). Findings were replicated in 6,699 samples from the OZ-ALC-GWAS study.
About BLMH
Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]
View all BLMH 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…