对氧磷酶基因1Gln192Arg多态性与青年缺血性脑卒中的关联研究  

Relationship between Q192R polymorphisms in paraoxonase 1 gene and young ischemic stroke

作　　者：刘竞丽[1] 李劲频[1] 汪晓玲[1] 杨乙[1] 

机构地区：[1]广西医科大学第一附属医院神经内科,南宁530021

出　　处：《中华医学杂志》2010年第13期912-916,共5页National Medical Journal of China

基　　金：基金项目：广西自然科学基金（桂科青0542048）

摘　　要：目的探讨青年缺血性脑卒中与对氧磷酶基因1（PONl）Gln192Arg（Q192R）多态性的关系。方法用聚合酶链反应技术检测2004年10月至2008年10月广西医科大学第一附属医院神经内科收治入院的131例青年缺血性脑卒中患者和135名健康对照者PON1基因Q192R多态性，并测定两组的血脂水平，同时应用颈动脉B超检测了131例患者颈动脉内膜中膜厚度。结果青年缺血性脑卒中患者RR基因型分布显著高于对照组（P〈0．05），RR基因型与青年缺血性脑卒中呈正相关[OR=1．743，95％CI（1．032—2．943）]。青年缺血性脑卒中患者和对照组192RR基因型携带者和非携带者比较，其血脂水平差异无统计学意义（P〉0．05）。青年缺血性脑卒中患者192RR基因型携带者和非携带者中吸烟、高血压、糖尿病的比例及体质指数差异无统计学意义；而携带者的颈动脉内膜中膜厚度较非携带者明显增加，差异有统计学意义（P〈0．05）。结论PON1基因Q192R多态性与青年缺血性脑卒中的遗传易感性相关，其中RR基因型可能是青年缺血性脑卒中的危险因素。其机制有可能是通过影响颈动脉内膜中膜的厚度加速动脉粥样硬化而起作用。Objective To investigate the relationship between polymorphisms in paraoxonasel （PON1） gene Gln192Arg（Q192R） and arterial ischemic stroke in young adults. Methods The Q192R genotype was analyzed by polymerase chain reaction in 131 young adults with ischemic stroke and 135 age- and gender-matched controls. The plasma lipids were also determined in patients and controls respectively. Furthermore, carotid artery intima-media thickness （IMT） in patients were measured by carotid ultrasonography. Results The distributions of Q192R genotype frequency were significantly different between patients with ischemic stroke and control individuals. And the patients had more RR genotypes than control individuals （P 〈0. 05）. Odds ratio （OR） for stroke were 1. 743 （95% confidence interval [ CI], 1. 032-2. 943） in subjects with RR genotype. We also studied the relationship between the polymorphisms and the lipid concentration in patients and control individuals. However, no significant association was detected between Q/R192 genotype and any of lipid measurements. Further, the prevalence of cigarette smoking, hypertension and diabetes showed no significant difference between RR and non-RR genotypes in patients. Body mass index （BMI） in two groups did not differ significantly. But IMT of patients with RR genotype obviously increased in comparison to those without RR genotype （P 〈 0. 05 ）. Conclusion The PON1 gene Q192R polymorphism may be associated with the susceptibility of ischemic stroke in young adults. RR genotype is a genetic risk for young adults with ischemic stroke through an increased carotid artery intima-media thickness and an accelerated atherosclerotic process.

关 键 词：缺血性脑卒中 青年 PON1基因 Q192R 

分 类 号：R743.3[医药卫生—神经病学与精神病学]