LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Dutch
- Study Design
- Genome-wide association study in 403 unrelated nonagenarians from long-living families and 1670 younger controls. Strongest candidates were then investigated in a meta-analysis of 4149 nonagenarian cases and 7582 younger controls.
- Conclusions
- No SNP reached significance in the GWAS but 62 SNPs had an indicative association with survival into old age. Of these 62 SNPs then studied in the meta-analysis, only one was significant: rs2075650 located in TOMM40 and close to APOE. This association may be due to linkage disequilibrium with rs429358 and rs7412 in APOE; both rs429358 and rs7412 were associated with longevity in the meta-analysis.
- Identifier
- rs7412
- In Other Studies (IDs)
- 783 1346
- Cytogenetic Location
- 19q13.32
- UCSC Genome Browser
- View 19q13.32 on the UCSC genome browser
Gene details
- HGNC symbol
- APOE
- Aliases
- AD2; LPG; APO-E; ApoE4; LDLCQ5
- Common name
- apolipoprotein E
- Description
- The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]
- Other longevity studies of this gene
- 30
- OMIM
- 107741
- Ensembl
- ENSG00000130203
- UniProt/Swiss-Prot
- A0A0S2Z3D5_HUMAN
- Entrez Gene
- 348
- UniGene
- 654439
- HapMap
- View on HapMap