LongevityMap variant

Entry Details

Longevity Association
Significant
Population
Ashkenazi Jewish
Study Design
The I405V polymorphism distribution was examined in 213 Ashkenazi Jews with exceptional longevity (mean [SD] age, 98.2 [5.3] years), their offspring (n = 216; mean [SD] age, 68.3 [6.7] years) and in an age-matched control group of Ashkenazi Jews (n = 258) plus in participants from the Framingham Offspring Study (n = 589)
Conclusions
Probands with exceptional longevity showed an increased frequency of homozygosity for the 405 valine allele (VV genotype) compared with controls
Identifier
I405V
In Other Studies (IDs)
185 385
Cytogenetic Location
16q13
UCSC Genome Browser
View 16q13 on the UCSC genome browser

Gene details

HGNC symbol
CETP
Aliases
BPIFF; HDLCQ10 
Common name
cholesteryl ester transfer protein 
Description
The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Other longevity studies of this gene
17
OMIM
118470
Ensembl
ENSG00000087237
UniProt/Swiss-Prot
A0A0S2Z3F6_HUMAN
Entrez Gene
1071
UniGene
89538
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cetp

In other databases

GenAge human genes
  • This gene is present as CETP

References

Barzilai et al. (2003)

Other variants which are also part of this study