LongevityMap Gene

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]
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
OMIM
107710
Ensembl
ENSG00000130208
UniProt/Swiss-Prot
A0A024R0T8_HUMAN
Entrez Gene
341
UniGene
110675
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
apoc1l
Mus musculus
Apoc1
Rattus norvegicus
LOC100911905

Studies (4)

Significant/Non-significant: 4/0

Study 1

Longevity Association
Significant
Population
English (Cambridge)
Study Design
Allele and genotype frequencies at Hpa1 RFLP were examined in 182 women and 100 men aged >84 years and in 100 boys and 100 girls younger than 17 years
Conclusions
Allele and genotype frequencies were significantly different in the elderly women compared to the younger sample. No difference was observed in the elderly men.
Indentifier
APOC1
Reference

    Study 2

    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
    Indentifier
    rs4420638
    Reference

      Study 3

      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.
      Indentifier
      rs4420638
      Reference

        Study 4

        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.
        Indentifier
        rs4420638
        Reference