Genetics
CETP activity is markedly elevated in Iranian patients with primary combined hyperlipidaemia, modulated by Taq1B genotype (Indian J Med Res 2009)
Original title: Taq1B polymorphism of cholesteryl ester transfer protein (CETP) gene in primary combined hyperlipidaemia
This study investigated the association of the CETP Taq1B polymorphism with plasma lipid levels and CETP activity in 102 Iranian patients with primary combined hyperlipidaemia and 214 healthy controls, using PCR-RFLP for genotyping. Plasma CETP activity was significantly higher in hyperlipidaemic patients than controls (P less than 0.001). In both groups, plasma HDL-cholesterol was higher in the B2B2 genotype than B1B1 or B1B2, while triglycerides and CETP activity were lower in B2B2 than the other genotypes. Genotype and allele frequencies differed significantly between hyperlipidaemic and normolipidaemic individuals (P less than 0.05), and the B2 allele correlated significantly with HDL-cholesterol (r=0.201 in controls, r=0.452 in patients) and with CETP activity (r=-0.123 in controls, r=-0.192 in patients). The authors conclude Taq1B polymorphism is associated with lipid profile and CETP activity changes and may contribute to genetic CAD risk in this population.
Original abstract
Background & Objective: Cholesteryl ester transfer protein (CETP) gene polymorphism is known to be associated with changes in lipid profiles. Primary hyperlipidaemia is considered to be a major risk factor for pancreatitis, atherosclerosis and coronary heart disease. We investigated the association of one common polymorphism in the CETP gene (Taq1B) with plasma lipid levels and CETP activity in Iranian subjects with and without primary combined hyperlipidaemia.
Methods: The study included 102 patients with primary combined hyperlipidaemia and 214 health individuals. Polymerase chain reaction and restriction fragment length polymorphisms were used for genotype detection. To determine the relationship between Taq1B polymorphism and lipid levels, lipids and CETP activity were measured in primary combined hyperlipidaemic and normolipidaemic subjects, with and without Taq1B polymorphism.
Results: Plasma CETP activity was significantly (P<0.001) higher in primary combined hyperlipidaemic individuals than in controls. Plasma HDL-C was higher in both groups, in the B(2)B(2) genotype than in the B(1)B(1) and B(1)B(2) genotypes, whereas the serum TG concentrations and CETP activity were lower in B(2)B(2) genotype compared with other genotypes (B(1)B(1) and B(1)B(2)). The genotype and allelic frequencies for this polymorphism differed significantly between hyperlipidaemic and nonmolipidaemic individuals (P<0.05). In both groups, CETP Taq 1B polymorphism (presence of B(2) allele) correlated significantly with HDL-cholesterol (HDL-C) (r=0.201 and r=0.452 in control and patient groups respectively) and CETP activity (r= -0.123 for controls and r= -0.192 for patients).
Interpretation & Conclusion: The results showed that Taq 1B polymorphism of CETP gene was associated with changes in lipids profile and plasma CETP activity in the selected population and might have a role in contributing to genetic risk of developing coronary artery disease.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.