肝脂酶基因启动子-514C/T多态性与脑梗死的关系  

Interaction between hepatic lipase gene promoter -514C/T polymorphism and cerebral infarction

作　　者：傅毅[1] 倪培华[2] 应雅韵[2] 陆国强[1] 刘建荣[1] 辛晓瑜[1] 陈生弟[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院神经内科,200025 [2]上海交通大学医学院附属瑞金医院临床检验系,200025

出　　处：《中华神经科杂志》2006年第11期758-761,共4页Chinese Journal of Neurology

基　　金："脑卒中二级预防和早期干预的多中心前瞻性研究"上海市科委重大项目资助(03DZ19702)

摘　　要：目的探讨上海汉族人群肝脂酶(HL)基因启动子-514C/T多态性与脑梗死的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测133例脑梗死患者和75名健康老年人HL基因启动子-514C/T多态性基因型,并研究其对血脂水平的影响。结果脑梗死组的基因型和等位基因频率分布与健康老年组相比,差异均有统计学意义;在脑梗死组中,突变型的甘油三酯(TG,mmol/L)水平(2·21±1·45)高于无突变型(1·68±0·72),而突变型的高密度脂蛋白胆固醇(HDL-C)水平低于无突变型,差异均有统计学意义(P<0·05);Logistic回归分析示,收缩压、血糖和T等位基因是脑梗死的独立危险因素。结论HL基因启动子-514C/T的多态性与脑梗死的发生直接相关;脑梗死患者启动子-514C/T基因突变可引起TG和HDL-C水平的变化。Objective To explore the interaction between hepatic lipase gene promoter -514C/T polymorphism and cerebral infarction in Shanghai Han population. Methods The genotype of the hepatic lipase gene promoter -514C/T were detected in 133 patients with cerebral infarction and 75 healthy elders using the polymerase chain reaction-restricted fragments length polymorphism technique. The effect of the gene polymorphism on serum lipid concentration were also studied. Results The significant difference was found in the frequencies of the genotypes and the alleles between cerebral infarction and healthy elders. In the group of cerebral infarction, the serum triglyceride levels in individuals with T allele were higher than those in individuals without T allele（ （2. 21 ± 1.45） mmol/L vs （ 1.68 ±0. 72） mmol/L） , but the serum high-density lipoprotein cholesterol levels were lower（ （1.17 ±0. 26） mmol/L vs （1.29 ±0. 33） mmol/L, P 〈0. 05）. The serum triglyceride levels in the group of cerebral infarction with T allele were higher than those in the group of healthy elders with T allele （ （2.21± 1.45 ） mmol/L vs （ 1.69 ±0. 61 ） mmol/L）, and the serum low-density lipoprotein cholesterol levels in the group of cerebral infarction without T allele were higher than those in the group of healthy eiders without T allele （ （3.30 ±1.00） mmoi/L vs （2. 87±0. 82） mmol/L）. Logistic regression analysis showed that systolic pressure, serum glucose and T allele were independent risk factors for cerebral infarction. Conclusion Hepatic lipase gene promoter - 514C/T polymorphism is directly related to cerebral infarction. In addition, -514C/T gene polymorphism in patients with cerebral infarction may influence triglyceride and high-density lipoprotein cholesterol levels, which proves that the hyperlipemia has close relationship with some gene mutations in cerebral infarction.

关 键 词：脑梗塞 脂肪酶 启动区(遗传学) 多态现象(遗传学) 

分 类 号：R743.3[医药卫生—神经病学与精神病学]