LongevityMap Gene

Gene details

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]
Cytogenetic Location
7q22.1
UCSC Genome Browser
View 7q22.1 on the UCSC genome browser
OMIM
173360
Ensembl
ENSG00000106366
UniProt/Swiss-Prot
A0A024QYT5_HUMAN
Entrez Gene
5054
UniGene
414795
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
srp-3
Danio rerio
serpine1
Mus musculus
Serpine1
Rattus norvegicus
Serpine1

In other databases

GenAge human genes
CellAge

Studies (7)

Significant/Non-significant: 2/5

Study 1

Longevity Association
Non-significant
Population
Danish
Study Design
The 1-bp guanine deletion/insertion (4G/5G) polymorphism was examined in the promoter region in 187 centenarians (47 males and 140 females) and 201 controls (20-64 years)
Conclusions
No significant differences relative to longevity were found
Indentifier
1-bp guanine deletion/insertion (4G/5G)
Reference

    Study 2

    Longevity Association
    Significant
    Population
    Italian
    Study Design
    The 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter region was examined in 124 healthy individuals >100 years old and 130 young, healthy individuals
    Conclusions
    In centenarians there was a significantly higher frequency of the 4G allele and of the homozygous 4G4G genotype associated with high PAI-1 (SERPINE1) levels
    Indentifier
    1-bp guanine deletion/insertion (4G/5G)
    Reference

      Study 3

      Longevity Association
      Non-significant
      Population
      American (Caucasian)
      Study Design
      Genotypes for -675 4G/5G were studied in 2224 men and women aged 65 years and older at baseline
      Conclusions
      4G/4G genotype appeared to be associated with lower non-cardiovascular mortality in men, but with greater cardiovascular mortality in women
      Indentifier
      1-bp guanine deletion/insertion (4G/5G)
      Reference

        Study 4

        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).
        Indentifier
        SERPINE1
        Reference

          Study 5

          Longevity Association
          Non-significant
          Population
          Danish
          Study Design
          The 1-bp guanine deletion/insertion (4G/5G) polymorphism was examined in 187 centenarians and 201 healthy controls aged 20-64 years (mean age 42 years)
          Conclusions
          No significant differences relative to longevity were found
          Indentifier
          1-bp guanine deletion/insertion (4G/5G)
          Reference

            Study 6

            Longevity Association
            Non-significant
            Population
            Dutch
            Study Design
            The 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter region was examined in 648 subjects >85 years old
            Conclusions
            In the cross-sectional analysis, the genotype distributions were similar in elderly and young subjects
            Indentifier
            1-bp guanine deletion/insertion (4G/5G)
            Reference

              Study 7

              Longevity Association
              Non-significant
              Population
              German
              Study Design
              205 donors (147 women, 58 men; aged 80-98 years, mean 86.1) were examined for the 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter region
              Conclusions
              The 4G/5G polymorphism was not found to be associated with longevity
              Indentifier
              1-bp guanine deletion/insertion (4G/5G)
              Reference