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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 study the association between the C242T polymorphism of p22phox subunit of NAD (P) H oxidase and stroke. Methods: A total of 118 patients with cerebral hemorrhage, 125 patients with cerebral infarction and 147 normal control subjects were collected. All subjects were from Han nationality in Shanghai. There were no significant differences among the three groups in baseline age, sex ratio, body mass index (BMI) The differences of blood glucose, blood lipid and other indexes were measured respectively. The frequency of gene mutation in different population was compared by polymerase chain reaction, restriction fragment length polymorphism (PCR-RFLP) and gene sequencing. Results: CT + TT genotype (9.3%, 9.6%) and T allele (4.7%, 5.2%) in cerebral hemorrhage group and cerebral infarction group were significantly higher than those in control group (2.0% and 1.0%, P <0.05 ). One TT genotype was found in cerebral infarction group. TT genotype was not found in hemorrhage group and normal control group, which was consistent with the result of gene sequencing. Logistic regression analysis was used to analyze the association between the C242T polymorphism of p22phox subunit and cerebral hemorrhage (β = 1.712, OR = 5.537, 95% CI: 1.120-27.381, P = 0.036) = 1.432, OR = 4.187, 95% CI: 0.934-18.774, P = 0.061), indicating that C242T gene polymorphism may be a risk factor for cerebral hemorrhage and cerebral infarction. CONCLUSION: The polymorphism of NAD (P) H oxidase p22phox subunit C242T is associated with cerebral hemorrhage and cerebral infarction, which may be a risk factor for stroke. However, compared with the traditional risk factors such as hypertension and alcohol consumption, C242T polymorphism has no significant effect on cerebral infarction.