LongevityMap variant

Entry Details

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).
Identifier
rs8192678
In Other Studies (IDs)
2284
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser

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]
Other longevity studies of this gene
7
OMIM
604517
Ensembl
ENSG00000109819
UniProt/Swiss-Prot
A0A024R9Q9_HUMAN
Entrez Gene
10891
UniGene
527078
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ppargc1a
Mus musculus
Ppargc1a
Rattus norvegicus
Ppargc1a

In other databases

GenAge human genes

References

Santiago et al. (2013)

Other variants which are also part of this study