rs3829787
This is a upstream gene variant variant in the CHRNA5 gene.
▶Research that mentions this SNP (1)
▶Functionally significant nicotine acetylcholine receptor subunit α5 promoter haplotypes are associated with susceptibility to lung cancer in ChineseAssociationN=1,003Xia Zheng et al.(2011)· Cancer
A case-control study of 505 lung cancer patients and 498 controls from a Chinese population investigated CHRNA5 gene variants in the promoter region. Two haplotype combinations at positions -1640 (rs3829787, C/T) and -62 (rs3841324, ins/del) showed protective effects: the T/ins haplotype (OR=0.33, p=0.0002) and C/del haplotype (OR=0.61, p=0.0094) were significantly associated with reduced lung cancer susceptibility. Functional studies revealed these protective haplotypes had opposite promoter activities, with T/ins showing highest activity and C/del showing lowest activity, suggesting both hyperactivity and hypoactivity of the CHRNA5 promoter may reduce cancer risk.
About CHRNA5
The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
View all CHRNA5 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…