Screening Of Single Nucleotide Polymorphisms Of All Coding Region In ABCA1 Gene And Relationship Of R1587K And Plasma Lipids And Coronary Artery Disease

Background and ObjectivesThe ABCAl gene, a member of the ATP-binding cassette A(ABCA1) transporter superfamily, which encodes proteins translocating a wide variety of substrates across cellular membranes. ABC transporters regulate the cellular cholesterol efflux from peripheral cells to high-density lipoprotein. The ABCAl proteins play key roles in lipid homeostasis and atherosclerosis.Mutations in ABCAl lead to familial high density lipoprotein deficiency and Tangier disease, which is characterized by severely diminished plasma high-density lipoprotein cholesterol(HDL-C) levels and a predisposition to splenomegaly and frequently cardiovascular disease (CVD).Many epidemiological studies have shown a reciprocal relationship between coronary heart disease and plasma HDL-C levels. Low levels of plasma HDL-C are associated with an increased risk of atherosclerotic complications and now are generally accepted as a strong and independent risk factor for the development of premature atherosclerosis. The prevailing opinion is that HDL plays a pivotal role in reverse cholesterol transport, a process that delivers excess cholesterol from...