rs2232165
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | increased risk for heavy alcohol consumption | |
| (T;T) | increased risk for heavy alcohol consumption |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 172448354 |
| Gene | GHSR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2232165 |
| dbSNP (classic) | rs2232165 |
| ClinGen | rs2232165 |
| ebi | rs2232165 |
| HLI | rs2232165 |
| Exac | rs2232165 |
| Gnomad | rs2232165 |
| Varsome | rs2232165 |
| LitVar | rs2232165 |
| Map | rs2232165 |
| PheGenI | rs2232165 |
| Biobank | rs2232165 |
| 1000 genomes | rs2232165 |
| hgdp | rs2232165 |
| ensembl | rs2232165 |
| geneview | rs2232165 |
| scholar | rs2232165 |
| rs2232165 | |
| pharmgkb | rs2232165 |
| gwascentral | rs2232165 |
| openSNP | rs2232165 |
| 23andMe | rs2232165 |
| SNPshot | rs2232165 |
| SNPdbe | rs2232165 |
| MSV3d | rs2232165 |
| GWAS Ctlg | rs2232165 |
| GMAF | 0.03398 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
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
[PMID 18828808] Association of pro-ghrelin and GHS-R1A gene polymorphisms and haplotypes with heavy alcohol use and body mass
[PMID 20404923
] 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 21448464] The ghrelin signalling system is involved in the consumption of sweets.
| ClinVar | |
|---|---|
| Risk | Rs2232165(T;T) |
| Alt | Rs2232165(T;T) |
| Reference | Rs2232165(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Short stature |
| Variation | info |
| Gene | GHSR |
| CLNDBN | Short stature, idiopathic, autosomal |
| Reversed | 1 |
| HGVS | NC_000003.11:g.172166144G>A |
| CLNSRC | |
| CLNACC | RCV000404056.1, |
