rs8192475

This variant is located in the CHRNA3 gene.

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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication
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Research that mentions this SNP (1)

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Variants in nicotinic acetylcholine receptors α5 and α3 increase risks to nicotine dependence
AssociationN=2,936Xiangning Chen et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This twin-based genetic association study identified variants in nicotinic acetylcholine receptor genes CHRNA5 and CHRNA3 that significantly increase risk for nicotine dependence. Notably, rs16969968 (CHRNA5, Asp398Asn) and rs1051730 (CHRNA3) showed significant associations with Fagerström Test for Nicotine Dependence scores in two independent samples, while displaying opposite allelic effects for alcohol dependence—a pattern suggesting complex gene-substance interactions. No associations were found with cannabis abuse/dependence.

Traits studied:Alcohol abuse/dependenceCannabis abuse/dependenceNicotine dependenceTobacco smoking
PubMedDOIMetascience Observatory

About CHRNA3

This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

View all CHRNA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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