肝脂肪酶基因-514C/T多态性与缺血性脑卒中患者血脂水平的关联研究

目的探讨肝脂肪酶基因（LIPC）-514C/T多态性与缺血性脑卒中患者总胆固醇（TC）、甘油三酯（TG）、高密度脂蛋白胆固醇（HDL-C）、低密度脂蛋白胆固醇（LDL-C）及其比值之间的关系。方法采用同胞对研究设计方法,共调查了220个患病不一致同胞对,采用多聚酶链式反应-限制性片段长度多态性（PCR-RFLP）方法对LIPC-514C/T多态性进行基因型鉴定。运用非参数连锁分析和以家庭为基础的关联分析方法进行连锁和关联分析。结果患病先证者的TG、TG/HDL-C、TC/HDL-C水平高于未患病同胞,而HDL-C水平低于未患病同胞,差异均有统计学意义（p〈0.05）。LIPC-514T等位基因与TC/HDL-C比值之间存在连锁关系（p=0.038）,LIPC-514T等位基因与TC/HDL-C比值降低之间存在统计学关联（Z=-2.11,p=0.035）。结论血脂代谢异常是缺血性脑卒中最重要危险因素,LIPC-514C/T多态性可能通过影响血脂代谢异常这个中间环节而最终导致缺血性脑卒中的发生。

Association study of hepatic lipase gene (LIPC)-514C/T polymorphism and Ischemic stroke lipid metabolism

Objective To investigate the association between the hepatic lipase gene（LIPC）-514C/T polymorphism and Ischemic stroke lipid metabolism in Han Chinese population.Methods This was a sib-pairs design study.Polymerase chain reaction-restriction fragment length polymorphism（RFLP） were used for the detection of LIPC-514C/T genotypes in 220 sib-pairs.Non-paremetic linkage analysis using the Haseman-Elston regression analysis and family-based association test were implemented.Results Non-paremetic linkage analysis using the Haseman-Elston regression analysis were found that variation in LIPC-514T allele was found to be linkage with TC/HDL-C（p =0.038）.There was significant association between LIPC-514T allele and TC/HDL-C in dominant model（Z=-2.11,p =0.035） by family-based association test.Conclusion The LIPC-514T allele may play critical roles in the intermediate physiological pathway of ischemic stroke pathophysiology.