LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Danish
Study Design
Alleles in candidate pathways (GH/IGF1 signaling, DNA damage signaling and repair and pro/antioxidants) were investigated for association with longevity in 1089 oldest-old (age 92-93) and 736 middle-aged Danes
Conclusions
Eleven SNPs (in GSR, KL, GHRHR, INS, GHSR, IGF2R, RAD52, WRN, RAD23B, POLB and NTLH1) were associated with longevity after correction for multiple hypothesis testing. No replications were observed in German and Dutch populations.
Identifier
rs572169
Cytogenetic Location
3q26.31
UCSC Genome Browser
View 3q26.31 on the UCSC genome browser

Gene details

HGNC symbol
GHSR
Aliases
GHDP 
Common name
growth hormone secretagogue receptor 
Description
This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
OMIM
601898
Ensembl
ENSG00000121853
UniProt/Swiss-Prot
GHSR_HUMAN
Entrez Gene
2693
UniGene
130212
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ghsrb
Mus musculus
Ghsr
Rattus norvegicus
Ghsr

References

Soerensen et al. (2012)

Other variants which are also part of this study