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rs1044396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2 Increased risk of Nicotine dependence among males
Make rs1044396(C;T)
Make rs1044396(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position63349782
GeneCHRNA4
is asnp
is mentioned by
dbSNPrs1044396
ebirs1044396
HLIrs1044396
Exacrs1044396
Varsomers1044396
Maprs1044396
PheGenIrs1044396
hapmaprs1044396
1000 genomesrs1044396
hgdprs1044396
ensemblrs1044396
gopubmedrs1044396
geneviewrs1044396
scholarrs1044396
googlers1044396
pharmgkbrs1044396
gwascentralrs1044396
openSNPrs1044396
23andMers1044396
23andMe allrs1044396
SNP Nexus

SNPshotrs1044396
SNPdbers1044396
MSV3drs1044396
GWAS Ctlgrs1044396
GMAF0.3609
Max Magnitude2
? (C;C) (C;T) (T;T) 28
[PMID 15154117OA-icon.png] associated with vulnerability to nicotine addiction in men.

g2b2mh blog rs1044396 mediates effects of nicotine self-medication via parietal cortex. subjects with the (T;T) genotype showed robust brain activity in the parietal cortex while subjects with the (C;C) genotype showed very little change in activity.

Neighborrs28931591
Distance778
OMIM118504
DescCHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4; CHRNA4
Variant0005
Relatedalso



[PMID 19482438] Association of genes coding for the alpha-4, alpha-5, beta-2 and beta-3 subunits of nicotinic receptors with cigarette smoking and nicotine dependence

OMIM118504
Desc
Variant0005
Relatedalso


[PMID 22008229] Association of CHRNA4 polymorphism with depression and loneliness in elderly males


[PMID 17135278OA-icon.png] Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs.


[PMID 17503330OA-icon.png] A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence.


[PMID 17613539] Association of attentional network function with exon 5 variations of the CHRNA4 gene.


[PMID 17948872] Association of dopamine, serotonin, and nicotinic gene polymorphisms with methylphenidate response in ADHD.


[PMID 18534558OA-icon.png] Gene-gene interactions among CHRNA4, CHRNB2, BDNF, and NTRK2 in nicotine dependence.


[PMID 18571741OA-icon.png] Genetic variability in nicotinic acetylcholine receptors and nicotine addiction: converging evidence from human and animal research.


[PMID 18618000OA-icon.png] A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.


[PMID 19211801OA-icon.png] Synergistic effects of genetic variation in nicotinic and muscarinic receptors on visual attention but not working memory.


[PMID 19238175OA-icon.png] New insights into the genetics of addiction.


[PMID 19259974OA-icon.png] Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes.


[PMID 19429020] Individual variation in a cholinergic receptor gene modulates attention.


[PMID 20493238OA-icon.png] Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease.


[PMID 21130611] Evidence for the modality independence of the genetic epistasis between the dopaminergic and cholinergic system on working memory capacity.


[PMID 22180580] Association Between Nicotinic Acetylcholine Receptor Single Nucleotide Polymorphisms and Smoking Cessation.


[PMID 22373960] A cognitive phenotype for a polymorphism in the nicotinic receptor gene CHRNA4.


GET Evidence
rs1044396
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.405041
summary



[PMID 22722381] The role of the CHRNA4 gene in Internet addiction: a case-control study.


[PMID 22760121] Interaction of the cholinergic system and the hypothalamic-pituitary-adrenal axis as a risk factor for depression: evidence from a genetic association study.


[PMID 22947540] The dopamine D2 receptor gene DRD2 and the nicotinic acetylcholine receptor gene CHRNA4 interact on striatal gray matter volume: evidence from a genetic imaging study.


[PMID 23350800OA-icon.png] Nominal association with CHRNA4 variants and nicotine dependence.


[PMID 25647695] Modulation of nicotine effects on selective attention by DRD2 and CHRNA4 gene polymorphisms


ClinVar
Risk rs1044396(G,T;G,T)
Alt rs1044396(G,T;G,T)
Reference rs1044396(C;C)
Significance Other
Disease not specified
Variation info
Gene CHRNA4
CLNDBN not specified
Reversed 1
HGVS NC_000020.10:g.61981134G>A
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000079313.7,