OrganismHomo sapiens
Aging PhenotypeCorrelation
Allele TypeRecessive
StrainAshkenazi Jewish
DescriptionHomozygosity for the I405V variant of CETP is associated with exceptional longevity among Ashkenazi Jews (Barzilai et al., 2003).
Gene FunctionCholesteryl ester transfer protein is involved in the regulation of cholesterol transport and high-density lipoprotein (HDL) levels.
Other PhenotypesHomozygosity for the I405V allele is associated with larger HDL and LDL particle sizes as well as a lower prevalence of hypertension, cardiovascular disease, and metabolic disease (Barilai et al., 2003).
Primary ReferenceBarzilai, N., G. Atzmon, C. Schechter, E. J. Schaefer, A. L. Cupples et al., 2003 Unique lipoprotein phenotype and genotype associated with exceptional longevity. Jama 290: 2030-2040. [Abstract]
Other References
Relevant LinksOMIM:
KeywordsHomo sapiens, human, heart disease, cholesterol, fat, diabetes, insulin resistance, centenarian