Effects of the Variants of Activin Receptor-like Kinase-1 and 2 on the Lipid Profile of Patients with Coronary Heart Disease

Abstract

Introduction:Coronary heart disease (CHD) due to atherosclerosis is a multifactorial disease with high morbidity caused by interaction of various genetic and environmental factors. Hyperlipidemia which is accepted as the most important risk factor for atherosclerosis; characterized by high concentration of low density lipoprotein (LDL) -cholesterol (LDL-C) and low concentration of high density lipoprotein (HDL)- cholesterol (HDL-C). Epidemiological studies prove the inverse relationship between HDL-C levels and CHD. Apolipoprotein A1, the major protein of HDL, is secreted as proprotein and then cleaved by C-terminal procollagen endoproteinase/bone morphogenetic protein-1 (BMP-1). Reporting of the role of BMP receptors in lipoprotein metabolism indicates that variations in these genes may be important. However, there are no studies in the literature about the variations in type I receptors for activin receptor-like kinase (ALK) 1 and ALK2 and its effects on lipid profile. In this study, it was aimed to determine the role of the gene variants of ALK1 (Q292P ve S333G) and ALK2 (R206H) receptors in the development of CHD and their effects on serum lipoprotein levels.Methods:This study was carried out using a sample of 131 patients with CHD and 51 controls. ALK1 and ALK2 genotypes were determined by real-time polymerase chain reaction and technique.Results:Genotype distributions of ALK1 and ALK2 were the same between the study groups (p>0.05). Mutations in ALK1 and ALK2 were observed only in the patient group. ALK1 Q292P mutation and ALK2 R206H mutation exerted positive effects on the serum lipid profile.Conclusion:The findings of our study suggested that mutations of ALK1 and ALK2 genes may contribute to antiatherogenic lipid profile and may protect against the development of CHD.

Keywords

• mutation
• coronary hearth disease
• alk1
• alk2