rs1044396
This is a variant in the CHRNA4 gene that changes a serine to an arginine.
▶ClinVar annotation
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
View on ClinVar →▶Research that mentions this SNP (3)
▶Modulation of nicotine effects on selective attention by DRD2 and CHRNA4 gene polymorphismsAssociationN=58Stefan Ahrens et al.(2015)· Psychopharmacology
This double-blind, within-subject study examined 58 healthy non-smokers to investigate whether CHRNA4 rs1044396 and DRD2 rs6277 polymorphisms modulate nicotine's effects on visual distractor interference. DRD2 CC carriers showed the strongest reduction in distractor interference after 7 mg transdermal nicotine (F(2,49)=3.694, p=0.032), with a synergistic effect when combined with at least one CHRNA4 C allele, suggesting that dopaminergic and cholinergic genetic variations jointly influence individual responsiveness to nicotine's cognitive effects.
▶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.
▶Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genesAssociationN=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.
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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