LongevityMap variant
- Longevity Association
- Non-significant
- Population
- Italian (Southern)
- Study Design
- A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
- Conclusions
- After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
- 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
Homologs in model organisms
- Danio rerio
- ghra
- Danio rerio
- ghrb
- Mus musculus
- Ghr
- Rattus norvegicus
- Ghr
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Ghr
- GenAge human genes
- This gene is present as GHR
- GenDR gene expression
- A homolog of this gene for Mus musculus is present as Ghr
- GenDR gene manipulations
- A homolog of this gene for Mus musculus is present as Ghr
Di Cianni et al. (2013)
Other variants which are also part of this study