C242T基因多态性与大动脉粥样硬化型脑梗死的相关性研究

目的 研究还原型辅酶Ⅱ(NADPH)氧化酶p22phox亚基C242T基因多态性与上海松江地区汉族人群大动脉粥样硬化型脑梗死(LAACI)的相关性.方法 采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)、基因测序等技术对310例上海松江地区汉族人群LAACI患者(LAACI组)和330例对照组的C242T基因多态性位点进行基因型、等位基因频率检测,分析C242T基因多态性与LAACI的相关性.结果 LAACI组丙二醛(MDA)水平、NADPH氧化酶活性明显高于对照组(P＜0.05);LAACI组吸烟率、饮酒率、高血压率、收缩压、舒张压,以及血糖、总胆固醇(TC)、三酰甘油(TG)、低密度脂蛋白胆固醇(LDL-C)、氧化高密度脂蛋白(ox-HDL)、氧化低密度脂蛋白(ox-LDL)水平均比对照组高(P＜0.05),HDL-C水平比对照组低(P＜0.05);LAACI组较对照组有更高的杂合子(CT)+纯合子(TT)基因型频率及T等位基因频率(P＜0.05);Logistic回归分析显示,吸烟、血糖、高血压、收缩压、舒张压、脂蛋白aLp(a)]、ox-HDL水平、MDA水平、NAD-PH氧化酶活性、基因型是LAACI的独立危险因素.结论 NADPH氧化酶p22phox亚基C242T基因多态性与LAACI有相关性,可能是高血压、吸烟和脂氧化之外的另一个独立危险因素.

Correlation between gene C242T polymorphism and large artery atherosclerotic cerebral infarction in the population of Han nationality of Shanghai's Songjiang district

Objective To explore the relationship between the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase p22phox subunit C242T gene polymorphism and large artery atherosclerotic cerebral infaretion(LAACI) among Han population in Songjiang district of Shanghai city.Methods The polymerase chain reaction-restrictive fragment length polymorphism analysis and gene sequencing techniques were adopted to conduct the gene type and allele frequency detection of C242T gene polymorphism loci in 310 Han patients with LAACI and 330 healthy individuals as control group in Shanghai Songjiang area.Then the correlation between C242T gene polymorphism and LAACI was analyzed.Results The level of MDA and the activity of NADPH oxidase in the LAACI group were significantly higher than those in the control group (P＜0.05).The smoking rate,alcohol drinking rate,hypertension rate,systolic pressure,diastolic pressure,and levels of blood glucose,TC,TG,LDL,ox-HDL and ox-LDL in the LAACI group were higher than those in the control group (P＜0.05),while the HDL level in LAACI group was lower than that in the control group (P＜0.05).The frequencies of CT+TT genetype and T allelic gene in the LAACI group were much higher than those in the control group (P＜0.05);the Logistic regression analysis found that smoking,hypertension,systolic pressure,diastolic pressure,blood glucose level,Lp (a),ox-HDL level,MDA level,NADPH oxiolase activity and NADPH C242T genotype were independent risk factors for LAACI.Conclusion NADPH oxidase P22phox C242T gene polymorphism has a correlation with LAACI and is another independent risk factor for LAACI except for hypertension,smoking and lipid oxidation.