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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 investigate the relationship between the -514C / T polymorphism of hepatic lipase (HL) gene promoter and cerebral infarction in Shanghai Han population. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of promoter-514C / T polymorphism of HL gene in 133 patients with cerebral infarction and 75 healthy controls. Effect of blood lipid levels. Results The genotype and allele frequency distribution of cerebral infarction group were significantly different from those in healthy elder group. The level of triglyceride (TG, mmol / L) in cerebral infarction group (2 · 21 ± 1 · 45) was higher than that of non-mutation (1.68 ± 0.72), while the level of mutant HDL-C was lower than that of non-mutation (P <0.05). Logistic regression analysis showed that systolic blood pressure, blood glucose and T allele were independent risk factors for cerebral infarction. Conclusion The -514C / T polymorphism of HL gene promoter is directly related to the occurrence of cerebral infarction. The mutation of promoter-514C / T gene in patients with cerebral infarction may cause the changes of TG and HDL-C.