Molecular-genetics of the hypoalphalipoproteinemiasin Italy

摘要

The molecular bases of hypoalphalipoproteinemia (HA), which is associated with premature coronary heart disease (pCAD) in most cases, were investigated in 80 Italian probands. ABCA1, Apo AIj LCAT, LPL and GBA were the candidate genes. The molecular defect was found in 64% of probands (4% ABCA1, 4% Apo AI, 11% LCAT, 44% LPL and 1% GBA mutations). Premature CAD was found in homozygotes for ABCA1 and Apo AI gene mutations and in heterozygotes who also carried other cardiovascular risk factors. In heterozygous subjects for LCAT mutations, there was no clear evidence of an increase in cardiovascular risk. A high prevalence of pCAD was found in males over 40 carrying LPL gene mutations.