rs1044394
This is a synonymous variant in the CHRNA4 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); Autosomal dominant nocturnal frontal lobe epilepsy 1; Inborn genetic diseases; not specified
View on ClinVar →▶Research that mentions this SNP (1)
▶Association ofCHRNA4polymorphisms with smoking behavior in two populationsAssociationN=3,039Shizhong Han et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This candidate gene association study examined five CHRNA4 SNPs in 1,249 European-Americans and 1,790 African-Americans to evaluate associations with smoking behavior. The synonymous SNP rs1044394 was significantly associated with nicotine dependence (DSM-IV ND: P=0.001; FTND: P=0.01) and remained significant after multiple testing correction for ND (P=0.033). Rs2236196 was associated with cigarettes per day (P=0.003), with similar association patterns observed in both ancestry groups.
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]
View all CHRNA4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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