rs3743074

This is a splice region variant variant in the CHRNA3 gene.

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ClinVar annotation

Benign★★★☆
3 submitters2 publications

Urinary bladder, atony of

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Research that mentions this SNP (1)

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Identification of pharmacogenetic markers in smoking cessation therapy
AssociationN=436Heitjan DF et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This Bayesian pharmacogenetic analysis of a bupropion vs placebo smoking cessation trial (n=436 European ancestry participants) identified four SNPs with pharmacogenetic relevance from 59 candidate SNPs in nicotinic acetylcholine receptor genes. The strongest signal was rs871058 in CHRNA5, which showed treatment-by-SNP interaction effects on 7-day smoking cessation rates. Bayesian hypothesis testing proved more conservative than unadjusted frequentist tests but less so than multiplicity-corrected tests, with no control SNPs showing significant associations.

Traits studied:Response to bupropion therapySmoking cessationTobacco dependence
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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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