LongevityMap variant

Entry Details

Longevity Association
Significant
Population
European
Study Design
Genome-wide linkage scan in 2118 European nonagenarian sibships and younger controls from various European studies followed by genome-wide association study in a subgroup of 1228 unrelated nonagenarian and 1907 geographically matched controls
Conclusions
Only one SNP (rs4420638 in the TOMM40/APOE/APOC1 gene locus) was significantly associated with longevity in the GWAS
Identifier
rs4420638
In Other Studies (IDs)
386 720
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

References

Beekman et al. (2013)

Other variants which are also part of this study