LongevityMap Gene

Gene details

HGNC symbol
PPARGC1A 
Aliases
LEM6; PGC1; PGC1A; PGC-1v; PPARGC1; PGC-1alpha; PGC-1(alpha) 
Common name
PPARG coactivator 1 alpha 
Description
The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser
OMIM
604517
Ensembl
ENSG00000109819
UniProt/Swiss-Prot
A0A024R9Q9_HUMAN
Entrez Gene
10891
UniGene
527078
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
ppargc1a
Mus musculus
Ppargc1a
Rattus norvegicus
Ppargc1a

In other databases

GenAge human genes

Studies (5)

Significant/Non-significant: 1/4

Study 1

Longevity Association
Non-significant
Population
Japanese
Study Design
2 exonic polymorphisms were examined in 122 semisupercentenarians (older than 105, 107 female, 15 male, mean age 106.8 years) and 122 healthy younger controls (105 female, 17 male, mean age 33.33)
Conclusions
No significant differences relative to longevity were found
Indentifier
PPARGC1A
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Caucasians
    Study Design
    Meta-analysis of GWAS in Caucasians from four prospective cohort studies: the Age, Gene/Environment Susceptibility-Reykjavik Study, the Cardiovascular Health Study, the Framingham Heart Study, and the Rotterdam Study participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Longevity was defined as survival to age 90 years or older (n = 1,836); the comparison group comprised cohort members who died between the ages of 55 and 80 years (n = 1,955).
    Conclusions
    There were 273 single-nucleotide polymorphism (SNP) associations with p < .0001, but none reached significance after correcting for multiple testing
    Indentifier
    rs2970848
    Reference

      Study 3

      Longevity Association
      Significant
      Population
      Dutch
      Study Design
      1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
      Conclusions
      As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
      Indentifier
      PPARGC1A
      Reference

        Study 4

        Longevity Association
        Non-significant
        Population
        Spanish
        Study Design
        The association between five common polymorphisms in genes of this pathway and extreme longevity were examined using a case (107 centenarian, 100–111 years, 89 female)-control (284 young adults, ≤50 years, 150 female) design
        Conclusions
        The studied genetic variants of the PPARD-PPARGC1A-NRF-TFAM pathway were not associated with extreme longevity. A marginal association could exist for rs1937 in TFAM (p=0.003).
        Indentifier
        rs8192678
        Reference

          Study 5

          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
          rs8192678
          Reference