Rs2948694

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dbSNPrs2948694
hapmaprs2948694
hgdprs2948694
ensemblrs2948694
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hgvbaseg2prs2948694
medrefsnprs2948694
23andMers2948694
SNP Nexus

GeneGHSR
Chromosome3
Orientationplus
Position173647856
GenotypeEffect
rs2948694(A;A)normal
rs2948694(A;G)increased risk for heavy alcohol consumption
rs2948694(G;G)increased risk for heavy alcohol consumption


Genotypes Magnitude Summary
Rs2948694(A;A) 00 normal
Rs2948694(A;G) increased risk for heavy alcohol consumption
Rs2948694(G;G) 22 increased risk for heavy alcohol consumption

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

? (A;A) (A;G) (G;G)
Neighborrs2232165
Distance981

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

PharmGKBPA162360623
Name
AnnotationThis variant is associated with body mass in heavy alcohol consuming individuals.
GeneGHSR
Featue
EvidencePubMed ID:18828808
Drugsethanol
DiseasesAlcoholism
Curation LevelCurated