LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Dutch
Study Design
Genome-wide association study in 403 unrelated nonagenarians from long-living families and 1670 younger controls. Strongest candidates were then investigated in a meta-analysis of 4149 nonagenarian cases and 7582 younger controls.
Conclusions
No SNP reached significance in the GWAS but 62 SNPs had an indicative association with survival into old age. Of these 62 SNPs then studied in the meta-analysis, only one was significant: rs2075650 located in TOMM40 and close to APOE. This association may be due to linkage disequilibrium with rs429358 and rs7412 in APOE; both rs429358 and rs7412 were associated with longevity in the meta-analysis.
Identifier
rs2075650
In Other Studies (IDs)
282 355 360 723 1323
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Danio rerio
tomm40l
Mus musculus
Tomm40
Rattus norvegicus
Tomm40

References

Deelen et al. (2011)

Other variants which are also part of this study