LongevityMap variant

Entry Details

Longevity Association
Significant
Population
European
Study Design
A genome-wide association meta-analysis was performed in 7729 long-lived individuals of European descent (>=85 years) and 16,121 younger controls ( <65 years) followed by replication in an additional set of 13,060 long-lived individuals and 61 156 controls.
Conclusions
rs2149954 and rs4420638 were observed significantly associated with longevity. Meta-analysis showed rs2149954 (T) associates with increased survival.
Identifier
rs4420638
In Other Studies (IDs)
279 720
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

Deelen et al. (2014)

Other variants which are also part of this study