中国新疆维吾尔族人群基质金属蛋白酶9基因R279Q多态性与冠状动脉粥样硬化性心脏病的关联

背景：基质金属蛋白酶9与动脉粥样硬化的发生发展密切相关,基质金属蛋白酶9基因多态性可能与冠状动脉粥样硬化性心脏病(冠心病)遗传易感性相关。目的：探讨新疆维吾尔族人群基质金属蛋白酶9基因6号外显子上R279Q(rs17576)多态性与冠状动脉粥样硬化性心脏病发病的相关性。方法：采用聚合酶链反应-限制性片段长度多态性方法对362 例维吾尔族冠心病患者和413例冠脉造影阴性者基质金属蛋白酶9基因R279Q多态性进行分析,比较两组间基质金属蛋白酶9基因多态性频率分布的差异。结果与结论：冠状动脉粥样硬化性心脏病组和对照组RR,RQ和QQ基因型频率分别为34.3%,42.8%,22.9%和37.8%,43.3%,18.9%。冠状动脉粥样硬化性心脏病组RQ+QQ 基因型和Q等位基因频率(65.7%,44.3%)与对照组(62.2%,40.6%)频率近似(χ²=1.04,P=0.31;χ²=2.26,P=0.13)。R279Q多态性分布在冠状动脉粥样硬化性心脏病组不同冠脉病变支数亚组中也无显著性差异(χ²=0.61,P=0.74)。提示基质金属蛋白酶9基因R279Q多态性与新疆维吾尔族人群冠状动脉粥样硬化性心脏病的发生、发展无明显相关性。

Associations between matrix metalloproteinase-9 polymorphism R279Q and coronary heart disease in Uighur population of Xinjiang

BACKGROUND:Matrix metalloproteinase-9 (MMP-9) plays a pivotal role in the development of atherosclerotic lesion. The potentially functional MMP-9 polymorphisms may contribute to the susceptibility of coronary heart disease (CHD).OBJECTIVE:To investigate the association between matrix metalloproteinase-9 polymorphism (R279Q) and CHD in Uighur population of Xinjiang. METHODS: A total of 362 patients with CHD and 413 control subjects were selected. Polymerase chain reaction and restriction fragment length polymorphism (RFLP-PCR) was used to detect the common R279Q polymorphism of the MMP-9 gene. The relationship between the polymorphism in the MMP-9 gene and the severity of coronary arterial stenosis was analyzed. RESULTS AND CONCLUSION:The frequencies of RR, RQ and QQ were 34.3%, 42.8% and 22.9% in the CHD group while those were 37.8%, 43.3% and 18.9% in the control group. The RQ+QQ genotype frequency (65.7%, 62.2%) and Q-allele frequency (44.3%, 40.6%) in the CHD group and control group showed not statistically significant differences, respectively (x²=1.04, P=0.31; χ²=2.26, P=0.13). The frequencies of RQ and QQ genotypes of the R279Q polymorphism were not statistically different among CHD patients with one, two and three or more significantly diseased vessels (χ²=0.61,P=0.74). The findings suggest no significant association was found between R279Q polymorphism and CHD in Uighur population of Xinjiang.