Detection Of Single Nucleotide Polymorphisms Of All Coding Regions Of ABCA1 Gene And Family Survey Of New M233V Site

Study BackgroundBeing a integration membrane protein, ATP-binding cassette transporter A1 (ABCA1) is considered to play an important role in the process of reverse cholesterol transport (RCT) and the primary formation of high density lipoprotein (HDL) by using ATP as a source of energy. So ABCA1 is considered as the keeper of RCT. Mutations of ABCA1 gene may result in Tangier disease and familialhypoalphalipoproteinemia (FHA) . Furthermore, some common single nucleotide polymorphism (SNP) of ABCA1 gene can significantly affect plasma lipid level, the development of atherosclerosis and the severity of coronary heart disease. Different SNP have distinct influence on ABCA1 gene function, and the same SNP may have diverse function in different race. Recent studies indicate that some SNPs are correlated with plasma lipid level and narrowed coronary artery in European and American general individuals. It is worth to note that SNP in coding region of ABCA1 gene is important to mediate the expression of ABCA1 protein and different SNP contribute differently to the presence of coronary heart disease. Distribution frequency of the same SNP change in various race is different, and effects on plasms lipid and coronary atherosclerosis are also distinct.