内皮型一氧化氮合酶基因多态性与宁夏地区缺血性脑血管病的相关性分析

The Relationship between Polymorphisms in Endothelial Nitric Oxide Synthase Gene and Cerebral Ischemic Stroke in Ningxia

目的研究内皮型一氧化氮合酶(eNOS)基因多态性与宁夏地区人群缺血性脑血管病之间的关系。方法应用聚合酶链反应(PCR)法对宁夏地区596例健康对照者、468例缺血性脑血管病患者的eNOS基因第4内含子可变重复序列多态性(VNTR)进行基因型分析。结果两组人群eNOS基因第4内含子VNTR表现为eNOS4a/4a,eNOS4a/4b,eNOS4b/4b3种基因型。在缺血性脑卒中患者中aa基因型频率为2.7%,ab基因型频率为18.7%,bb基因型频率为78.6%;对照组中aa基因型频率为1.2%,ab基因型频率为13.6%,bb基因型频率为85.2%。a等位基因频率在患者组和对照组分别为12.1%和8.0%,经χ2检验,二组间基因型频率a等位基因频率分布差异有统计学意义(χ2=9.122,P=0.010;χ2=10.008,P=0.002)。结论eNOS4a基因携带与宁夏地区人群缺血性脑血管病的发生有关联性。

Objective To investigate the relation between endothetial nitric oxide synthase（eNOS） gene polymorphism and cerebral ischemic stroke patients of Ningxia. Methods A case - control study was performed to determine whether the variable number of tandem repeats（VNTR） polymorphism of eNOS gene were associated with cerebral ischemic stroke. The VNTR polymorphism of eNOS gene was analyzed with PCR in 468 patients with cerebral ischemic stroke group and 596 healthy subjects group from Ningxia population, Results Involved in this study, VNTR4 of eNOS gene showed 3 genetypes, named eNOS4a, eNOS4b and eNOS4a/4b. The frequencies of the three gcnetypes were as follows：aa- type 2.7% ,ab -type 18.7% ,bb - type 78.6% in patient group and aa- type 1.2%, ab -type 13.6%, bb -type 85.2% in control group, stastic difference between two groups was significant （χ^2 = 9. 122 ,P =0.010）. The frequencies of eNOS4a in cases was signifi- cantly higher than that in controls （ χ^2 = 10.008, P = 0.002）. Conclusion eNOS4a is an genetic factor which is associate with cerebral ischemic stroke of Ningxia population.