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目的 探讨Ⅰ型基质金属蛋白酶 (MatrixMetalloproteinase 1,MMP 1)基因 3’非翻译区C793 6T多态性位点与中国人脑卒中的关系。方法 采用限制性片段长度多态性分析技术 ,检测脑卒中组 163 6例和非脑卒中对照组 14 2 1例MMP 1基因C793 6T多态的分布。结果 脑卒中组和对照组MMP 1基因C793 6T多态性基因型频数分布符合Hardy Weinberg平衡。血栓性脑梗塞组具有TT基因型个体的频数 ( 62 0 % )高于对照组 ( 5 5 7% ) ,差异有统计学意义 (P <0 0 5 ) ;T等位基因频率分布也高于对照组 (P <0 0 5 )。腔梗组和脑出血组分别与对照组间基因频率分布差异无明显统计学意义。多元Logistic回归分析显示MMP 1基因C793 6T多态性对血栓性脑梗塞的OR值为 1 3 1(b =0 2 68,P =0 0 1,OR =1 3 1,95 %CI :1 0 65～ 1 60 5 )。结论 MMP 1基因C793 6T多态可能是影响中国人群动脉粥样硬化性血栓性脑梗塞的遗传因素之一。
Objective To investigate the relationship between the C793 6T polymorphism in the 3 ’untranslated region of matrix metalloproteinase 1 (MMP 1) gene and Chinese stroke. Methods The restriction fragment length polymorphism (RFLP) technique was used to detect the distribution of MMP-1 C793 6T polymorphism in 163 6 stroke patients and 14 2 stroke non-stroke controls. Results The frequency distribution of C793 6T polymorphism in MMP 1 gene in stroke group and control group was in accordance with Hardy Weinberg equilibrium. The frequency of individuals with TT genotype (62.0%) in thrombotic cerebral infarction group was significantly higher than that in control group (57.5%) (P <0.05), and the frequency of T allele was also higher than Control group (P <0 05). There was no significant difference in the distribution of gene frequencies between the infarction group and the intracerebral hemorrhage group and the control group. Multivariate logistic regression analysis showed that the OR of C793 6T polymorphism of MMP-1 gene in thrombotic cerebral infarction was 1331 (b = 0 2 68, P = 0 0 1, OR = 1 3 1, 95% CI: 1 0 65 ~ 1 60 5). Conclusion The C793 6T polymorphism of MMP-1 may be one of the genetic factors affecting atherosclerotic thrombotic cerebral infarction in Chinese population.