LongevityMap variant group

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.

Variants (2)

APOC1

1.
Identifier
rs4420638
In Other Studies (IDs)
279 386
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser

Gene details

HGNC symbol
APOC1
Aliases
Apo-CI; ApoC-I; apo-CIB; apoC-IB 
Common name
apolipoprotein C1 
Description
This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Other longevity studies of this gene
3
OMIM
107710
Ensembl
ENSG00000130208
UniProt/Swiss-Prot
A0A024R0T8_HUMAN
Entrez Gene
341
UniGene
110675
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
apoc1l
Mus musculus
Apoc1
Rattus norvegicus
LOC100911905

TOMM40

1.
Identifier
rs2075650
In Other Studies (IDs)
282 355 360 899 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

Nebel et al. (2011)

Other variants which are also part of this study