Association between the TaqIB polymorphism in the cholesteryl ester transfer protein gene locus and postprandial plasma lipoprotein levels in heterozygotes for familial hypercholesterolemia

Abstract

We examined the influence of cholesteryl ester transfer protein TaqIB polymorphism on triglyceride (TG) response to an oral fat tolerance test (OFTT) in patients heterozygous for familial hypercholesterolemia (hFH). We genotyped 67 hFH patients (32 men and 35 postmenopausal women) who were subjected to an OFTT. All B1 allele carriers had lower high-density lipoprotein cholesterol (HDL-C) levels (p=0.013) and higher postprandial TG response at 6 and 8 h (p=0.05 and p=0.04, respectively) compared to B2 allele carriers. Multiple regression analysis showed that in the hFH group with a positive response, the presence of the B2 allele was significantly related to lower levels of TG-area under the curve (AUC) (p<0.01) compared to B1, adjusting for age, gender and body mass index. In the hFH group with a negative response, although age and female gender had a significant effect on TG-AUC levels (p<0.01 for both), the allele type was not significantly related to the TG-AUC levels (p=0.99). B2 carriers had a lower postprandial TG response compared to B1 carriers. There were no differences in TG levels between B1 and B2 carriers in patients with a negative OFTT response. Therefore, at higher TG concentration, the B2 allele may protect against an exaggerated postprandial TG increase and subsequent lowering of HDL-C.