LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Danish, American
Study Design
Generalized estimating equations were used to compare the likelihood of carrying risk alleles in offspring (n = 2307) and spouse controls (n = 764) of long-lived families, adjusting for age, sex, level of education, and family membership
Conclusions
The likelihood of carrying an APOE ɛ4 allele or a G allele in rs2075650 was lower (odds ratio [OR], 0.75; p = 0.005 and OR, 0.70; p = 0.002) and the likelihood of carrying an APOE ɛ2 allele was higher (OR, 1.5; p = 0.007) among family members in the offspring generation than among their spouse controls. Both reduction in the frequency of the ε4 allele and increase in the frequency of the ε2 allele contribute to longevity.
Identifier
rs2075650
In Other Studies (IDs)
282 360 723 899 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

Schupf et al. (2013)

Other variants which are also part of this study