LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Italian (Sicily)
Study Design: The distribution of AAT allele variants was examined in 127 young patients affected by acute myocardial infarction (AMI), 255 young controls and 143 centenarians
Conclusions: The Z allele frequency was most frequent in centenarians, intermediate in healthy young controls and less frequent in AMI patients. The heterozygous MZ genotype was significantly over-represented in centenarians and under represented in AMI patients with intermediate values in young controls (16/255).

HGNC symbol: SERPINE1
Aliases: PAI; PAI1; PAI-1; PLANH1
Common name: serpin family E member 1
Description: This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Other longevity studies of this gene: 6
OMIM: 173360
Ensembl: ENSG00000106366
UniProt/Swiss-Prot: A0A024QYT5_HUMAN
Entrez Gene: 5054
UniGene: 414795
HapMap: View on HapMap

GenAge model organism genes

GenAge human genes

GenAge microarray genes

CellAge

Listì et al. (2007)