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

1.
Identifier
APOE
In Other Studies (IDs)
227 248
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

Homologs in model organisms

Danio rerio
apoea
Mus musculus
Apoe
Rattus norvegicus
Apoe

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Apoe
GenAge human genes
  • This gene is present as APOE

CERS1

1.
Identifier
CERS1
In Other Studies (IDs)
3470
Cytogenetic Location
19p13.11
UCSC Genome Browser
View 19p13.11 on the UCSC genome browser

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

Caenorhabditis elegans
lagr-1
Danio rerio
cers1
Mus musculus
Cers1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as lagr-1

HRAS

1.
Identifier
HRAS
In Other Studies (IDs)
1157 3471
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

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

Danio rerio
hrasb
Mus musculus
Hras1
Rattus norvegicus
Hras1

In other databases

GenAge human genes
  • This gene is present as HRAS
CellAge
  • This gene is present as HRAS

References

Jazwinski et al. (2010)

Other variants which are also part of this study