Mef2a Gene And Alox5 Gene Polymorphism And Coronary Heart Disease Study On The Relationship Between

BACKGROUND Coronary Atherosclerotic Heart Disease(CAD) and its most important complication, acute myocardial infarction(MI), are leading causes of disability and death in both developed and developing countries. Although little is known about the genetic basis of CAD, multiple risk factors have been identified. CAD is believed to be caused by many genetic factors, environmental factors, and interactions among these factors. Our views of the pathophysiology of CAD have evolved over time from the "lipid metabolism disorder" in the 1970s, to the "smooth muscle cell proliferation disease" in the 1980s, the "inflammation and immune responses" in the 1990s, and the "endothelium dysfunction or abnormal development hypothesis" recently. In this study, we chose two CAD candidate genes, MEF2A and ALOX5, which relate with endothelium development and inflammation respectively, to identify SNPs exist in this two genes, and investigate their association with CAD in Chinese Han polulation.METHODS Case-control design was applied in this study. We enrolled individuals who were documented by coronary angiography to have evidence of at least a 75% stenosis in a major epicardial artery as the CAD case group, and who were documented by coronary angiography to have evidence of at most a 25% stenosis in a major epicardial artery as the CAD control group. We scanned aim fragments by PCR-SSCP to detect all polymorphisms, than genotyped all polymorphisms by PCR-SSCP or PCR direct sequencing. Multiple analysis was performed to investigate the possible effect of the polymorphisms to CAD. SHEsis and haplo.stat software were used to analyze genotype frequencies, allele frequencies, linkage disequilibrium and haplotype frequencies. Statistics were performed by SPSS10.0 for windows.RESULTS 1) We identified one SNP (891C\T) in exon9, two SNPs (1305G\A, 1353G\T) and one 3bp deletion polymorphism (1294-1296CCG\-) in exon11 of MEF2A gene. The deletion allele frequency of 1294-1296CCG\- polymorphism in our population was significantly lower than the reported in Caucasian population, and a little lower than Japanese population. 2) All of the statistic analysis results indicated that the 891C\T,1294-1296CCG\-, 1305G\A, 1353G\T polymorphisms of MEF2A gene lacked of association with CAD in our study. 3) Total ten polymorphisms were...