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rs2948694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) increased risk for heavy alcohol consumption
(G;G) 2 increased risk for heavy alcohol consumption
ReferenceGRCh38 38.1/141
Chromosome3
Position172447373
GeneGHSR
is asnp
is mentioned by
dbSNPrs2948694
ebirs2948694
HLIrs2948694
Exacrs2948694
Varsomers2948694
Maprs2948694
PheGenIrs2948694
hapmaprs2948694
1000 genomesrs2948694
hgdprs2948694
ensemblrs2948694
gopubmedrs2948694
geneviewrs2948694
scholarrs2948694
googlers2948694
pharmgkbrs2948694
gwascentralrs2948694
openSNPrs2948694
23andMers2948694
23andMe allrs2948694
SNP Nexus

SNPshotrs2948694
SNPdbers2948694
MSV3drs2948694
GWAS Ctlgrs2948694
GMAF0.1763
Max Magnitude2
? (A;A) (A;G) (G;G) 28

http://www.scientificblogging.com/news_releases/comorbidity_ghrelin_hunger_hormone_implicated_in_alcohol_dependence

Jörgen Engel, professor of pharmacology at the Sahlgrenska Academy, University of Gothenburg

For this research, scientists recruited 417 Spanish individuals from the general population (n=279) as well as heavy drinkers (n=138) admitted to a hospital for treatment. The study sample – comprised of abstainers, moderate and heavy alcohol drinkers – was then examined for single nucleotide polymorphisms (SNPs) in the pro-ghrelin and growth hormone secretagogue receptors (GHS-R1A) (GHSR) gene.

Findings showed that SNP rs2232165 of the GHS-R1A gene was associated with heavy alcohol consumption (and therefore presumably alcohol dependence). SNP rs2948694 of the same gene as well as haplotypes of both the pro-ghrelin and the GHS-R1A genes were associated with an increased body mass in individuals consuming heavy amounts of alcohol.

"Not only are these specific variations in the genes producing ghrelin and its receptor more common in heavy alcohol-using individuals," said Engel, "these variations also seem to have an influence on the body weight of these heavy drinking individuals, as we found an association with an increased body weight in these patients. In other words, if you are a carrier of these genetic variants in the ghrelin or ghrelin receptor gene, you are more susceptible to having multiple addictive behaviours such as alcohol dependence and overeating."

"This is one further important piece of evidence in humans that there is a link between the activity of the ghrelin hormone and the action of alcohol," noted Spanagel.

Results will be published in the December issue of Alcoholism: Clinical & Experimental Research and are currently available at Early View.10.1111/j.1530-0277.2008.00793.x

Neighborrs2232165
Distance981

[PMID 18828808] Association of pro-ghrelin and GHS-R1A gene polymorphisms and haplotypes with heavy alcohol use and body mass



[PMID 18647811OA-icon.png] Ghrelin receptor gene polymorphisms and body size in children and adults.


[PMID 20404923OA-icon.png] Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity.


[PMID 20586762] Genetic variation of the ghrelin signaling system in females with severe alcohol dependence.


[PMID 21448464OA-icon.png] The ghrelin signalling system is involved in the consumption of sweets.


GET Evidence
rs2948694
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.132812
summary



[PMID 26059200] Genetic variation of the growth hormone secretagogue receptor gene is associated with alcohol use disorders identification test scores and smoking