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
rs1937
Cytogenetic Location
10q21.1
UCSC Genome Browser
View 10q21.1 on the UCSC genome browser

Gene details

HGNC symbol
TFAM
Aliases
TCF6; MTTF1; MTTFA; TCF6L1; TCF6L2; TCF6L3; MTDPS15 
Common name
transcription factor A, mitochondrial 
Description
This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Other longevity studies of this gene
6
OMIM
600438
Ensembl
ENSG00000108064
UniProt/Swiss-Prot
E5KSU5_HUMAN
Entrez Gene
7019
UniGene
594250
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
hmg-5
Danio rerio
tfam
Drosophila melanogaster
TFAM
Mus musculus
Tfam
Rattus norvegicus
Tfam

References

Santiago et al. (2013)

Other variants which are also part of this study