LongevityMap variant
Entry Details
- 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
- Identifier
- rs4292454
- In Other Studies (IDs)
- 2164
- Cytogenetic Location
- 5p13.1-p12
- UCSC Genome Browser
- View 5p13.1-p12 on the UCSC genome browser
Gene details
- HGNC symbol
- GHR
- Aliases
- GHBP; GHIP
- Common name
- growth hormone receptor
- Description
- This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
- Other longevity studies of this gene
- 8
- OMIM
- 600946
- Ensembl
- ENSG00000112964
- UniProt/Swiss-Prot
- A0A087X0H5_HUMAN
- Entrez Gene
- 2690
- UniGene
- 125180
- HapMap
- View on HapMap