Hindiii and S447x polymorphisms of lipoprotein lipase gene and their relationship to coronary artery disease

Abstract

Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide. Lipoprotein lipase is a key enzyme in lipoprotein metabolism and its gene is a major candidate gene for coronary heart disease. The aim of the present work was to study the association of HindIII and S447X polymorphisms in lipoprotein lipase gene with coronary artery disease and their impact on lipid metabolism. The study was conducted on 60 patients with CAD as defined by coronary angiography in addition to 50 apparently healthy subjects serving as a control group. Lipoprotein lipase gene polymorphism (HindIII and S447X) detection was done by polymerase chain reaction– restriction fragment length polymorphism (PCR- RFLP) technique. The present study revealed that the studied population was in Hardy- Weinberg equilibrium (HWE). HindIII polymorphism frequency did not differ between patients and controls. Meanwhile, the S447X polymorphism (SX genotype and the X allele) was more frequent in controls as compared to CAD patients. Carriers of X allele and H-X haplotype had lower triglyceride levels and higher HDL-C levels as compared to those with absent X allele and H+S haplotype. Meanwhile H- allele was not associated with any change in lipid profile. In conclusion, the S447X polymorphism can be considered as one of the protective factors against development of CAD. Meanwhile, HindIII polymorphism failed to prove any association with CAD.

Keywords: Coronary artery disease; lipoprotein lipase; HindIII polymorphism; S447X polymorphism; PCR; RFLP