LongevityMap Gene
Gene details
- HGNC symbol
- GHRHR
- Aliases
- GRFR; GHRFR; IGHD1B
- Common name
- growth hormone releasing hormone receptor
- Description
- This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
- Cytogenetic Location
- 7p14.3
- UCSC Genome Browser
- View 7p14.3 on the UCSC genome browser
- OMIM
- 139191
- Ensembl
- ENSG00000106128
- UniProt/Swiss-Prot
- A0A090N8Y6_HUMAN
- Entrez Gene
- 2692
- UniGene
- 767
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Ghrhr
- GenAge human genes
- This gene is present as GHRHR
Studies (3)
Significant/Non-significant: 1/2
Study 1
- Longevity Association
- Non-significant
- Population
- Dutch
- Study Design
- Codon 57 A/G SNP was examined in 1576 individuals aged 85 and older
- Conclusions
- No association with longevity was found
- Indentifier
- GHRHR
- Reference
Study 2
- 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.
- Indentifier
- rs2267723
- Reference
Study 3
- Longevity Association
- Non-significant
- Population
- American (Caucasian)
- Study Design
- 291 SNPs in 30 genes in the insulin/IGF1 signaling pathway were evaluated in 293 long-lived cases and 603 average-lifespan controls (all female), then replicated the candidate genes in two independent cohorts: 279 cases (47% male vs 797 controls(52.6% male) and 383 cases (25.2% male) vs 363 controls (42.7 % male)
- Conclusions
- Apart SNPs in FOXO3A and AKT1, no associations with longevity were significant after correcting for multiple testing, though SNPs in 7 other genes (FOXO1A, GHR, GHRHR, IGF1R, IGFBP3, IGFBP4, and PTEN) had suggestive significance
- Indentifier
- rs2228078
- Reference