Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP often coexists with longevity, and that higher HDL-C levels are found among healthy elderly. HALP is also associated with some diseases. Recent studies have shown that hetero and homozygosity for CETP gene mutations are associated with an increased coronary artery disease (CAD) risk.
Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR
タイトル
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
