Ⅰ型基质金属蛋白酶基因C7936T多态与中国人脑卒中的关系  

Relationship Between the C7936T Polymorphism of Matrix Metalloproteinase-1 Gene and Stroke

作　　者：尚蔚[1] 孙凯[2] 张红叶[2] 宋莉[2] 窦相峰[2] 吴晓东[1] 黄晓红[2] 惠汝太 

机构地区：[1]中国科学院研究生院生物系,北京100039 [2]中国医学科学院中国协和医科大学阜外心血管病医院心血管病研究所,北京100037

出　　处：《高血压杂志》2004年第3期225-228,共4页Chinese Journal of Hypertension

基　　金：国家 973重点基础研究发展规划基金资助 (G2 0 0 0 0 5690 1 )

摘　　要：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 The present study was to investigate the association between C7936T polymorphism of matrix metalloproteinase-1 gene and stroke in Chinese population. Methods 1636 cases with stroke (44.8% ischemicstroke, 33.5% lacunar infarction, and 27.7% hemorragic strohe) and 1421 healthy controls were recruited from 7 centers in China. Polymerase chain reaction followed by restriction fragment length polymorphism(PCR-RFLP)was used to detect C7936T polymorphism of MMP-1 gene in 3'untranslated region. Results The genotype frequencies of the MMP-1 gene C7936T polymorphism of two groups were in Hardy-Weinberg equilibrium. TT and T frequencies were significantly higher in the patients of ischemic stroke(62.0%, 78.3%) than in the control group(55.7%, 74.7%)(genotype: χ 2=7.816, P=0.021, OR=1.31, 95%CI:1.069-1.606; allele:χ 2=7.249, P=0.009, OR=1.309, 95%CI:1.076-1.594). There were no significant difference in genotype trequency between lacunar infarction and controls, neither were between in hemorrhagic stroke and controls. Multiple factor Logistic regression showed that the genotype of TT was an independent risk factor in the group of ischemic stroke(b=0.268, P=0.01, OR=1.31, 95%CI: 1.065-1.605). Conclusion These results suggested that the C7936T polymorphism of MMP-1 gene may be a susceptible gene to ischemic stroke in Chinese.

关 键 词：Ⅰ型基质金属蛋白酶 基因多态性 脑卒中 动脉粥样硬化性血栓性脑梗塞 

分 类 号：R743.3[医药卫生—神经病学与精神病学] Q753[医药卫生—临床医学]