Liver microarray analysis identifies human A-Imilano and A-II as determinants of the gene expression related to lipid and energy metabolism

Background and Aims: The natural variant of human A-I, i.e. the A-IMilano (A-IM), is the result of a point mutation, with arginine to cysteine substitution at position 173. Carriers of this mutation exhibit hypertriglyceridemia with markedly reduced HDL and A-I plasma levels, a condition generally associated with a high risk of premature coronary disease. Evaluation of the cardiovascular status in A-IM carriers, compared with control subjects from the same kindred, did not reveal any evidence of increased CVD. In this study, we investigated whether A-IM may impart a “gain of function” compared to wild-type apoA-I.