DNA polymorphisms at the apolipoprotein A1-CIII loci in Taiwanese: Correlation of plasma APOCIII with triglyceride level and body mass index

Background and purpose: Apolipoprotein (APO) A1-CIII genes are linked within a 2.6-kb region on human chromosome 11. ApoA1 is the main component of high-density lipoprotein (HDL), and apoCIII inhibits lipoprotein lipase activity. Genetic variations in APOA1-CIII may affect the function of apoA1/apoCIII and plasma lipid/lipoprotein levels, and thus, the risk of developing atherosclerosis. This study compared the frequency distributions of genetic variations in APOA1-CIII genes and their influence on plasma lipid concentrations in Taiwanese patients with coronary artery, disease (CAD) and in healthy controls. 
Methods: Six restriction site variations (RSVs) of the APOA1-CIII gene complex were investigated by DNA amplification using polymerase chain reaction and restriction enzyme digestion in 229 control subjects and 131 CAD patients during the period from 1992 through 1996. The blood lipid profiles of these subjects were also determined. 
Results: Thirty- seven distinct six-RSV genotypes were observed. Separate comparisons of the frequency distributions of the six genetic variations showed no significant differences between CAD patients and controls subjects, but the combined six- RSV-genotypes showed different frequency distributions between these two groups. Nine of the 37 six-RSV genotypes were found only in the CAD patients and higher frequencies of two of these types were observed in the CAD patients than in healthy controls. The effects of these genetic variations were on high-density lipoprotein cholesterol in women (for MspIB, PstI, SslI and PouII RSV) and total cholesterol (for PouII RSV), low-density lipoprotein cholesterol (for XmnI RSV), and apolipoprotein B (for MspI and SstI RSV) levels in men in the control group. Elevated plasma apoCIII concentration was significantly associated with an increased plasma triglyceride level and body mass index in the control group (P< 0.0001). 
Conclusions: Analysis of the frequency distribution of six RSVs of the APOA1-CIII gene complex in Taiwanese CAD patients and control subjects showed that the effect of genotype on plasma lipid levels was gender-specific and that the apoCIII level was closely associated with plasma triglyceride level and body mass index. Copyright © 2000 Formosan Medical Association.