Pl(A1/A2) polymorphism of platelet glycoprotein IIIa and risk of acute coronary syndromes in heterozygous familial hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal inherited disorder cause d by different mutations in the low density lipoprotein (LDL) receptor gene . It has been demonstrated that there is an increased risk of coronary hear t disease (CHD) in heterozygous FH subjects, although this excess CHD is no t only explained by the LDL-cholesterol concentration or the class of the L DL-receptor mutation. To investigate if a common polymorphism at the platel et glycoprotein (GP) IIIa gene locus could be related to CHD phenotypic var iation in heterozygous FH, we have carried out a case-control study. We hav e studied 40 cases and 40 controls matched for age, sex and genetic defect in the LDL-receptor gene. Allele frequency of p1(A2) polymorphism for cases and controls was 20 and 22.5%, respectively, and the difference was not si gnificant. In conclusion, our data do not support any association between t he GP IIIa polymorphism and the increased prevalence of acute coronary synd romes in the heterozygous FH subjects. (C) 1999 Elsevier Science Ireland Lt d. All rights reserved.