LongevityMap Gene
Gene details
- HGNC symbol
- LEP
- Aliases
- OB; OBS; LEPD
- Common name
- leptin
- Description
- This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008]
- Cytogenetic Location
- 7q32.1
- UCSC Genome Browser
- View 7q32.1 on the UCSC genome browser
- OMIM
- 164160
- Ensembl
- ENSG00000174697
- UniProt/Swiss-Prot
- A4D0Y8_HUMAN
- Entrez Gene
- 3952
- UniGene
- 194236
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as LEP
Studies (1)
Significant/Non-significant: 0/1
- 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
- rs13228377
- Reference