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
- Mus musculus
- Apoc1
- Rattus norvegicus
- Apoc1
- Rattus norvegicus
- LOC100910181
- Rattus norvegicus
- Apoc1
- Rattus norvegicus
- Apoc1
In other databases
- CellAge gene expression
- This gene is present as APOC1
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