中国上海汉族人群NAD(P)H氧化酶p22phox亚基C242T基因多态性与脑卒中相关性  

The relationship between NAD(P)H oxidase p22phox C242T polymorphism and stroke in the population of Han nationality of Shanghai city

作　　者：李洪涛[1] 顾彬[1] 于芳苹[1] 赵迎春[1] 娄晓丽[1] 梁冬雨[1] 

机构地区：[1]南京医科大学附属上海松江中心医院神经内科,上海201600

出　　处：《南京医科大学学报（自然科学版）》2013年第8期1081-1086,共6页Journal of Nanjing Medical University(Natural Sciences)

基　　金：上海市卫生局科研基金资助项目(2010098);上海市松江区卫生局领先合作项目A类(2011LX03)

摘　　要：目的:研究NAD(P)H氧化酶p22phox亚基C242T基因多态性与脑卒中的相关性。方法 :收集118例脑出血患者、125例脑梗死患者和147例正常对照组,研究对象均来自上海地区汉族人群,3组在年龄、性别构成比、体质指数(BMI)等基线指标均没有明显差异,分别进行血糖、血脂等各项指标的测定,用聚合酶链反应、限制性片段长度多态性分析(PCR-RFLP)和基因测序方法比较其在不同人群中的基因突变频率。结果:脑出血组、脑梗死组CT+TT基因型(9.3%、9.6%)和T等位基因(4.7%、5.2%),均明显高于对照组(2.0%和1.0%,P<0.05),脑梗死组中发现1例TT基因型,出血组与正常对照组均未发现TT基因型,与基因测序结果一致。采用二分类Logistic回归分析p22phox亚基C242T基因多态性与脑出血的相关性(β=1.712,OR=5.537,95%CI:1.120～27.381,P=0.036),与脑梗死的相关性(β=1.432,OR=4.187,95%CI:0.934～18.774,P=0.061),表明C242T基因多态性可能是脑出血、脑梗死的危险因素。结论:NAD(P)H氧化酶p22phox亚基C242T多态性与脑出血、脑梗死均有一定的相关性,可能是脑卒中的一个危险因素。但与高血压和饮酒等传统危险因素相比,C242T多态性对脑梗死的影响并不显著。Objective：To investigate the relationship between the NAD（P）H oxidase p22phox C242T gene polymorphism and stroke.Methods：In this study,118 cases of cerebral hemorrhage,125 cases of cerebral infarction and 147 healthy controls were included,all cases are Han people in Shanghai region of China.Three groups had same baseline features of age,sexual proportion and BMI.Fasting glucose,and serum lipids were tested.The genotype and allele frequencies of the p22phox C242T polymorphism were determined by polymemse chain reaction-restriction fragment length polymorphism（PCR-RFLP） and gene sequencing technology.Results：The CT＋TT genotype frequencies in the cecebral hemorrhage group,cerebral infarction group and control group were 9.3%,9.6% and 2.0%,respectively.T allele frequencies were 4.7%,5.2%,and 1.0%,respectively.The CT genotype and T allele frequency of the cerebral hemorrhage group and cerebral infarction group were significant higher than that of the control group（P 0.05）,one TT genotype was found in cerebral infarction group,and no TT genotype was found in cecebral hemorrhage group and control group,which was consistent with the results of gene sequencing.Binary logistic regression analysis was used to determine the correlation of CT genotype,cerebral hemorrhage（β = 1.712,OR = 5.537,95%CI：1.120～27.381,P = 0.036） and cerebral infarction（β = 1.432,OR = 4.187,95%CI：0.934～18.774,P = 0.061）,respectively.Conclusion：These results suggest that the NAD（P）H oxidase p22phox C242T polymorphism was associated with cerebral hemorrhage and cerebral infarction,maybe serve as a risk factor.But compared to the traditional dangerous factors such as hypertension and alcohol,the effect of the C242T polymorphism on the cerebral infarction was not significant.

关 键 词：脑卒中 NAD(P)H氧化酶 C242T 基因多态性 

分 类 号：R743.3[医药卫生—神经病学与精神病学]