Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease

Fifteen common polymorphic variants at six loci (apolipoproteins Al, B, CII I and E, hepatic lipase and lipoprotein lipase) involved in plasma lipid tr ansport have been studied in 210 northern Spanish men, of whom 98 had prove n coronary artery disease. The other 112 men were clinically free from coro nary artery disease and acted as controls. The genotypes were investigated for relationships with plasma lipid and lipoprotein levels, as well as for the presence of coronary artery disease. As expected, the mean levels of pl asma triacylglycerols (triglycerides) and lipoprotein (a) and the number of smokers were significantly higher in the disease group. and high-density l ipoprotein (HDL)-cholesrerol was significantly lower. Surprisingly, plasma cholesterol and low-density lipoprotein cholesterol were not different betw een the two groups. With regard to the common mutations, plasma triacylglyc erol levels were related to the HindIII variants of lipoprotein lipase (P < 0.05), to the apolipoprotein CIII variant (C3175G in exon 4) and to the ap olipoprotein Al Xmnl polymorphisms (P < 0.05 and P<0.02 respectively). The apolipoprotein E variants were related to plasma cholesterol (P(0.05), HDL- cholesterol (P < 0.02), plasma triacylglycerols (P < 0.05) and the triacylg lycerol/HDL ratio (P < 0.01). Only the three-codon insertion/deletion varia nts of the apolipoprotein B signal peptide region discriminated between the two groups with or without arterial disease (P = 0.02). The possible funct ional effects of these common mutations are discussed.