LongevityMap Gene

Gene details

HGNC symbol
LEPR 
Aliases
OBR; OB-R; CD295; LEP-R; LEPRD 
Common name
leptin receptor 
Description
The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
OMIM
601007
Ensembl
ENSG00000116678
UniProt/Swiss-Prot
LEPR_HUMAN
Entrez Gene
3953
UniGene
23581
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as LEPR

Studies (2)

Significant/Non-significant: 0/2

Study 1

Longevity Association
Non-significant
Population
American (Caucasian)
Study Design
Genome-wide association study for longevity-related traits in up to 1345 Framingham Study participants from 330 families; 713 participants achieved age 65 years or greater. A total of 79 potential candidate genes and regions associated with longevity were also studied.
Conclusions
Although no genome-wide associations were significant, several SNPs in some previously associated genes with longevity had suggestive associations with age at death or morbidity-free survival at age 65 years. Noteworthy results included two SNPs within FOXO1A (rs10507486 and rs4943794) associated with age at death.
Indentifier
rs10493379
Reference

    Study 2

    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.
    Indentifier
    rs12145690
    Reference