LongevityMap variant

Entry Details

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.
Identifier
rs4292454
In Other Studies (IDs)
687
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

Homologs in model organisms

Danio rerio
ghra
Mus musculus
Ghr
Rattus norvegicus
Ghr

In other databases

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

References

Di Cianni et al. (2013)

Other variants which are also part of this study