LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Italian (Southern)
Study Design: APOA1-MspI-RFLP (-75 nt from the transcription starting site) polymorphism was examined in a healthy population with 304 subjects aged 18-45 years, 267 subjects aged 46-80 years and 229 subjects aged 81-109 years (including 184 subjects, 43 males and 141 females, older than 100 years)
Conclusions: The APOA1 allele P, which increases serum LDL-C at middle-age and is over-represented in cardiovascular diseases, tends to have higher frequency in the centenarians males

HGNC symbol: APOA1
Aliases: apo(a)
Common name: apolipoprotein A1
Description: This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
OMIM: 107680
Ensembl: ENSG00000118137
UniProt/Swiss-Prot: A0A024R3E3_HUMAN
Entrez Gene: 335
UniGene: 93194
HapMap: View on HapMap