rs279858

minus

Geno	Mag	Summary
(A;A)		None
(A;G)		None
(G;G)	2.1	apparently more prone to alcoholism

Reference

GRCh38 38.1/141

Chromosome

4

Position

46312576

Gene

GABRA2

is a	snp
is	mentioned by
dbSNP	rs279858
dbSNP (classic)	rs279858
ClinGen	rs279858
ebi	rs279858
HLI	rs279858
Exac	rs279858
Gnomad	rs279858
Varsome	rs279858
LitVar	rs279858
Map	rs279858
PheGenI	rs279858
Biobank	rs279858
1000 genomes	rs279858
hgdp	rs279858
ensembl	rs279858
geneview	rs279858
scholar	rs279858
google	rs279858
pharmgkb	rs279858
gwascentral	rs279858
openSNP	rs279858
23andMe	rs279858
SNPshot	rs279858
SNPdbe	rs279858
MSV3d	rs279858
GWAS Ctlg	rs279858

GMAF

0.4311

Max Magnitude

2.1

?

(A;A) (A;G) (G;G)

28

This SNP in the GABRA2 gene has been linked to Alcoholism. The effect of this SNP, a synonymous change at amino acid residue 132, is unknown, but it does not change the GABRA2 protein sequence.

Carriers of at least one rs279858(G) allele respond slower to the effects of alcohol and are thereby apparently more prone to alcoholism than carriers of two rs279858(A) alleles. Finasteride, an FDA approved drug for the treatment of benign prostatic hypertrophy and a modulator of GABRA2, was shown to have more of a blocking effect on rs279858(A) homozygotes. [PMID 15702134]

Note that nearby SNPs have been grouped into a haplotype that shows statistically stronger association with alcohol dependence, namely the haplotype consisting of the rs279871(A) + rs279845(T) + rs279836(A) alleles [PMID 15024690 ].

[PMID 18482426] 1050 nicotine-dependent cases and 879 non-dependent smoking controls rs279858 and rs16859834 aka rs2229940

[PMID 22501025 ] GABRA2 markers moderate the subjective effects of alcohol

[PMID 16080114 ] Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

[PMID 18005236] Human gamma-aminobutyric acid A receptor alpha2 gene moderates the acute effects of alcohol and brain mRNA expression.

[PMID 18634760 ] Uncovering genes for cognitive (dys)function and predisposition for alcoholism spectrum disorders: a review of human brain oscillations as effective endophenotypes.

[PMID 18727688 ] The role of GABRA2 in alcohol dependence, smoking, and illicit drug use in an Australian population sample.

[PMID 18818659 ] GABRG1 and GABRA2 as independent predictors for alcoholism in two populations.

[PMID 19207358 ] Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and Fagerstrom Test for Nicotine Dependence.

[PMID 19335651 ] Candidate genes for cannabis use disorders: findings, challenges and directions.

[PMID 19487630 ] Role of GABRA2 in trajectories of externalizing behavior across development and evidence of moderation by parental monitoring.

[PMID 20202923 ] A genome-wide association study of alcohol dependence.

[PMID 21118274 ] Role of GABRA2 in moderating subjective responses to alcohol.

[PMID 21483437 ] Impulsiveness and insula activation during reward anticipation are associated with genetic variants in GABRA2 in a family sample enriched for alcoholism.

[PMID 22978509 ] Convergence of Genome-Wide Association and Candidate Gene Studies for Alcoholism

[PMID 24166645 ] A GABRA2 Variant Is Associated with Increased Stimulation and 'High' Following Alcohol Administration

[PMID 22555154] Gamma-aminobutyric acid A receptor, alpha-2 (GABRA2) variants as individual markers for alcoholism: a meta-analysis.

[PMID 24975023 ] Effect of GABRA2 Genotype on Development of Incentive-Motivation Circuitry in a Sample Enriched for Alcoholism Risk

[PMID 25804982 ] Mechanisms in the relation between GABRA2 and adolescent externalizing problems

[PMID 26116794] Association of GABAA receptor α2 subunit gene (GABRA2) with alcohol dependence-related aggressive behavior

[PMID 27117237 ] Alcohol-Induced Stimulation Mediates the Effect of a GABRA2 SNP on Alcohol Self-Administrated among Alcohol-Dependent Individuals.