LongevityMap variant group
Entry Details
- Longevity Association
- Significant
- Population
- American (Georgia and Louisiana populations from African and European origin)
- Study Design
- Haplotype analysis was performed in three candidate genes, and the haplotype combinations were tested for association with exceptional longevity in the Georgia Centenarian Study (n=650) and Louisiana Healthy Aging Study (n=869)
- Conclusions
- An HRAS1 haplotype enhanced the effect of an APOE haplotype on exceptional survival, and a LASS1 haplotype further augmented its magnitude. These results were replicated in a second population.
Variants (3)
APOE
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
Homologs in model organisms
In other databases
CERS1
Gene details
- HGNC symbol
- CERS1
- Aliases
- EPM8; LAG1; UOG1; LASS1
- Common name
- ceramide synthase 1
- Description
- This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
- Other longevity studies of this gene
- 1
- OMIM
- 606919
- Ensembl
- ENSG00000223802
- UniProt/Swiss-Prot
- B4DE47_HUMAN
- Entrez Gene
- 10715
- UniGene
- 412355
- HapMap
- View on HapMap
Homologs in model organisms
HRAS
Gene details
- HGNC symbol
- HRAS
- Aliases
- CTLO; HAMSV; HRAS1; RASH1; p21ras; C-H-RAS; H-RASIDX; C-BAS/HAS; C-HA-RAS1
- Common name
- HRas proto-oncogene, GTPase
- Description
- This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 190020
- Ensembl
- ENSG00000174775
- UniProt/Swiss-Prot
- RASH_HUMAN
- Entrez Gene
- 3265
- UniGene
- 37003
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- let-60
- Danio rerio
- hrasb
- Danio rerio
- hrasa
- Drosophila melanogaster
- Ras85D
- Mus musculus
- Hras
- Rattus norvegicus
- Hras
- Rattus norvegicus
- Hras
- Saccharomyces cerevisiae
- RAS2
- Saccharomyces cerevisiae
- RAS1