LongevityMap variant

Entry Details

Longevity Association: Significant
Population: German
Study Design: Genome-wide association study comparing 664,472 autosomal SNPs in 763 long-lived individuals (mean age: 99.7 years) and 1085 controls (mean age: 60.2 years). Top SNPs from the GWAS were further investigated in an independent German sample comprised of 754 long-lived individuals (mean age: 96.9 years) and 860 controls (mean age: 67.3 years).
Conclusions: Only one SNP (rs4420638 near APOC1) was significantly associated with longevity after correcting for multiple hypothesis testing in the GWAS. This SNP was replicated in an independent German sample and can be explained by linkage disequilibrium with APOE allelic variants. rs2075650, also in LD with APOE alleles, was also associated with longevity.

HGNC symbol: TOMM40
Aliases: TOM40; PEREC1; C19orf1; PER-EC1; D19S1177E
Common name: translocase of outer mitochondrial membrane 40
Description: The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Other longevity studies of this gene: 6
OMIM: 608061
Ensembl: ENSG00000130204
UniProt/Swiss-Prot: TOM40_HUMAN
Entrez Gene: 10452
UniGene: 655909
HapMap: View on HapMap

CellAge gene expression

Nebel et al. (2011)