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目的探讨上海汉族人群肝脂酶(hepatic lipase,HL)基因启动子710T/C、763A/G多态性与血浆脂蛋白、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147例动脉粥样硬化性脑梗死患者和118例无心脑血管疾病老年人HL基因(hepatic lipase gene,LIPC)启动子710T/C、763A/G基因型,研究其对血脂代谢和脑梗死的影响。结果脑梗死组的基因型和等位基因频率分布与对照组比较无明显差异;脑梗死组中-710T/C、-763A/G突变型(CC和TC、GG和AG)的TG水平高于无突变型(TT、AA),而纯突变型(CC、GG)的HDL-C水平、HDL-C/TC比值均低于无突变型(TT、GG),差异有统计学意义(P<0.05)。Logistic回归分析示HDL-C/TC是脑梗死的独立保护因素,而收缩压和血糖是脑梗死的独立危险因素。结论LIPC启动子710T/C、763A/G多态可引起TG、HDL-C水平和HDL-C/TC的变化,但并不是脑梗死的独立危险因素。
Objective To investigate the association of 710T / C, 763A / G polymorphisms in hepatic lipase (HL) gene promoter with plasma lipoprotein and cerebral infarction in Shanghai Han population. Methods The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the expression of the HL gene (LIPC) in 147 patients with atherosclerotic cerebral infarction and 118 elderly patients without cardiovascular and cerebrovascular diseases. Promoter 710T / C, 763A / G genotype to study its effects on blood lipid metabolism and cerebral infarction. Results There was no significant difference in genotype and allele frequency distribution between cerebral infarction group and control group. TG levels of -710T / C and -763A / G mutant (CC, TC, GG and AG) in cerebral infarction group were higher than those in control group HDL-C and HDL-C / TC ratio of pure mutant (CC, GG) were lower than that of no mutation (TT, GG), the difference was statistically significant (P < 0.05). Logistic regression analysis showed that HDL-C / TC was an independent protective factor of cerebral infarction, and systolic blood pressure and blood glucose were independent risk factors of cerebral infarction. Conclusion The 710T / C and 763A / G polymorphisms of LIPC promoter may cause the changes of TG, HDL-C and HDL-C / TC, but not independent risk factors of cerebral infarction.