河南地区汉族人群ADAMTS7基因多态性与冠心病相关性分析

Association of ADAMTS7 gene polymorphism with coronary artery disease in Han population of Henan province

目的:研究河南地区汉族人群含Ⅰ型血小板结合蛋白基序的解聚蛋白样金属蛋白酶7(ADAMTS7)基因rs3825807和rs4380028位点单核苷酸多态性(SNP)与冠心病易感性、病变程度间的关系。方法:提取经冠状动脉造影或冠状动脉电子计算机断层扫描成像(CTA)确诊的416例冠心病患者及同期270例健康体检人群的全血基因组DNA,采用PCR扩增测序确定rs3825807和rs4380028位点的基因型,分析单核苷酸多态性与冠心病易感性、冠状动脉病变程度(Gensini评分量化)、颈动脉内膜厚度(超声检测)及其斑块数量间的关系。结果:在rs3825807位点中,等位基因T增加冠心病易感性,即使调整性别、年龄、高血压、吸烟等危险因素后差异仍具有统计学意义;在rs4380028位点中,等位基因G与冠心病易感性无相关性,调整危险因素后差异无统计学意义。rs3825807位点中的等位基因T与Gensini评分、颈动脉内膜厚度呈正相关,与颈动脉斑块数量无相关性;rs4380028等位基因G与Gensini评分、颈动脉内膜厚度无相关性,但与颈动脉斑块数量相关。结论:ADAMTS7的rs3825807等位基因T是冠心病的危险等位基因,增加冠心病易感性,主要是通过使血管内膜增厚影响冠状动脉病变程度;rs4380028等位基因G可能与动脉粥样硬化斑块数量有关,ADAMTS7的SNPs参与冠心病的发生发展。

To investigate the distribution of two SNPs(rs3825807 and rs4380028)in the population of Henan Province and analyze its relationships with incidence of coronary artery disease(CAD)and the degree of lesion.Methods:Based on coronary angiography or computed tomography angiography diagnosis,the blood genomic DNA of 416 patients with CAD and of 270 healthy people was extracted.The fragments containing rs3825807 and rs4380028 sites were amplified by PCR and then sequenced to determine the genotypes.The relationship of SNP with susceptibility to CAD,severity of coronary artery lesions(Gensini score quantification),carotid intima-thickness(Ultrasonography)and plaque numbers was statistically analyzed.Results:The allele T of the rs3825807 polymorphic loci increased susceptibility to CAD.Even after adjusting the risk factors such as gender,age,hypertension and smoking,the difference still had statistical significance.The correlation between allele G of the rs4380028 polymorphic loci and the susceptibility to CAD was not obvious.After adjusting age and other traditional risk factors,there was still no statistically significant difference.The Allele T in rs3825807 was correlated with severity of coronary atherosclerosis and carotid intima-thickness,but it′s not correlated with the number of carotid plaques.The correlation between rs4380028 allele G and Gensini score and carotid intima thickness was not obvious,but it′s related to the number of carotid plaques.Conclusion:The allele T of rs3825807 in ADAMTS7 is a dangerous allele of CAD,increasing susceptibility to CAD and aggravating the severity of coronary lesions through thickening of intima.The rs4380028 allele G may be associated with the number of atherosclerotic plaques.SNPs of ADAMTS7 are involved in the occurrence and development of CAD.