基质金属蛋白酶9基因-1562C/T多态性与新疆维吾尔族心肌梗死的相关性研究

Association of MMP9 gene -1562 C/T polymorphism with myocardial infarction in Uighur population of Xinjiang

目的 探讨新疆维吾尔族人群基质金属蛋白酶9（matrix metalloproteinase 9,MMP9）基因启动子区-1562C/T多态性与心肌梗死（myocardialinfarction,MI）发病的相关性.方法 选择经皮冠状动脉造影检查确诊的维吾尔族心肌梗死患者347例（MI组）,以同期冠脉造影阴性、排除冠心病诊断的403例维吾尔族患者为对照组.采用聚合酶链反应-限制性片段长度多态性方法对所有纳入对象MMP9基因-1562C/T多态性进行分析,比较两组间MMP9基因多态性频率分布的差异,并结合造影情况,探讨MMP9基因多态性与MI发病及冠脉狭窄程度的关系.结果 MI组CT＋TT基因型频率（27.67%）明显高于对照组（14.14%）,两组差异具有统计学意义（χ2=20.99,P＜0.01）,T等位基因频率在MI组和对照组分别为15.71%、7.56%（χ2=24.57,P＜0.01）.Logistic回归分析显示,携带-1562T等位基因的个体发生MI的风险大约升高2倍（OR=2.009,95%CI：1.250～3.230）;携带T等位基因合并糖尿病的个体发生MI的风险明显升高（OR=3.714,95%CI：1.299～10.773）.MMP9基因-1562C/T多态性分布与MI冠脉狭窄程度差异无统计学意义.结论 MMP9基因-1562C/T多态性可能与新疆维吾尔族人群MI茇病具有相关性;-1562T等位基因可能是MI遗传易感性的基因标记之一;-1562T等位基因与糖尿病在MI发生中具有协同作用.MMP9基因-1562C/T多态性与MI冠脉狭窄程度无关.

Objective To investigate the association between matrix metalloproteinase 9 gene （MMP9）- 1562C/T polymorphism and myocardial infarction （MI） in Uighur population of Xinjiang.Methods A total of 347 patients with MI evidenced by coronary arteriography, and 403 controls free from coronary artery disease with normal angiograms were recruited for the study. Polymerase chain reactionrestriction fragment length polymorphism （PCR-RFLP） was used to detect the -1562C/T functional promoter polymorphism of the MMP9 gene. The relationship between the polymorphism and the severity of coronary arterial stenosis was analyzed. Results The results showed that the frequency of CT and TT genotypes in patients with MI （27. 67%） was significantly higher than that in controls （14. 14%）. The frequencies of the - 1562T allele were 15. 71% and 7. 56% in the MI group and the control group respectively （2 = 24.57, P〈0.01）. Logistic regression analysis indicated that the T allele carriers （CT＋TT） had significantly increased risk of MI compared with the CC carriers （OR=2. 009, 95%CI： 1. 250-3. 230）. Individuals carrying the -1562T allele with diabetes mellitus were at an increased risk of MI （OR=3. 714, 95% CI： 1. 299-10. 773）. The frequencies of CT and TT genotypes were not significantly different among MI patients with one, two and three or more significantly diseased vessels （χ2 =0. 491, P=0. 782）. Conclusion The - 1562C/T polymorphism in the MMP9 gene promoter is associated with the susceptibility to MI in the Uighur population of Xinjiang. The T allele might be a risk factor of MI. And there was a coordinated effect between the -1562T allele and diabetes mellitus in the development of MI.The -1562C/T polymorphism may not be a predictor of the severity of coronary atherosclerosis.