Deoxyribonucleic acid (DNA) polymorphism in the apolipoprotein AI gene: a study in a Japanese population.

A Japanese group comprising 54 hyperlipidemic and 73 normolipidemic subjects were genotyped for DNA restriction fragment length polymorphisms (RFLPs) at the apoAI-CIII gene locus. The polymorphisms with Sstl were present at allelic frequencies of 0.63 (S1 allele) and 0.37 (S2 allele). Unlike the previously reported associations of the S2 allele with hypertriglycedemia found in Caucasians there was no difference in the frequency of S2 allele between normolipidemic and hyperlipidemic Japanese subjects. No significant association of genotypes were observed with serum levels of lipids and apolipoproteins, except for the association of the S2 allele with the higher mean level of HDL-cholesterol. In addition, among 26 patients who had coronary artery disease (CAD), as documented by angiography, there was no significant difference in the distribution of polymorphic alleles between CAD patients and normolipidemic control subjects.