rs1044397

This is a synonymous variant in the CHRNA4 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★★★☆
12 submitters4 publications

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Autosomal dominant nocturnal frontal lobe epilepsy 1; Inborn genetic diseases; NICOTINE ADDICTION, PROTECTION AGAINST; not specified

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Research that mentions this SNP (1)

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Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes
AssociationN=1,929Nancy L. Saccone et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This comprehensive association study of 226 SNPs across all 16 nicotinic receptor subunit (CHRN) genes identified four distinct genetic loci significantly associated with nicotine dependence in 1050 cases and 879 controls of European descent. The two most significant associations were rs16969968 (CHRNA5, non-synonymous, p=0.00013, OR=1.30) and rs578776 (CHRNA3, p=0.00011, OR=1.34) in the CHRNA5-CHRNA3-CHRNB4 cluster; one locus in the CHRNB3-CHRNA6 cluster tagged by rs13277254 (p=0.00010); and a novel locus in the CHRND-CHRNG cluster tagged by rs12466358 (p=0.00027). Joint analyses confirmed statistical independence of the two CHRNA5-CHRNA3-CHRNB4 signals.

Traits studied:Cigarette consumptionNicotine dependenceSmoking behavior
PubMedDOIMetascience Observatory

About CHRNA4

This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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