卵磷脂胆固醇酰基转移酶基因608C/T多态性与动脉粥样硬化性脑梗塞的关联研究

目的探讨卵磷脂胆固醇酰基转移酶（lecithin-cholesterol acyltransferase，LCAT）的基因LCAT 608C／T多态性在中国汉族人群中的分布及其与动脉粥样硬化性脑梗塞（atherosclerotic cerbral infarction，ACI）的关联。方法应用聚合酶链反应、单链构象多态性技术联合限制性片段长度多态性技术检测150例ACI患者和122名年龄、性别相匹配的正常对照者的LCAT 608C／T多态性。结果LCAT 608C/T位点基因型分布在ACI和对照组均符合Hardy-Weinberg平衡定律。ACI组CT基因型频率（14．0％）、T等位基因频率（7．0％）均显著高于对照组（P〈0.05）。ACI和对照组中608CC亚组HDL-C水平均高于同组内608CT亚组（P〈0．05）。结论LCAT 608C／T多态性可能为中国人群ACI易感因素，T等位基因可能与HDL-C代谢有关。

Lecithin-cholesterol acyltransferase gene 608C/T polymorphism associated with atherosclerotic cerebral infarction

Objective To explore the distribution of lecithin-cholesterol acyltransferase gene (LCAT) 608C/T polymorphism in Chinese Han population and the relationship of the polymorphism association with the occurrence of atherosclerotic cerebral infarction. Methods The lecithin:cholesterol acyltransferase gene 608C/T polymorphism is identified by polymerase chain reaction(PCR),single-strand conformation polymorphism(SSCP)and restriction fragment length polymorphism(RFLP) in 150 patients with ACI and 122 healthy controls matching age and sex. Results The distribution of LCAT 608C/T gene polymorphism was in accordance with Hardy-Weinberg equilibrium. The CT genotype frequency(14.0%)and T allele frequency (7.0%)in ACI group were significantly higher than those in control group(P<0.05).The concentration of high density lipoprotein cholesterol (HDL-C) in 608CC subgroups were significantly higher than those in 608CT subgroups both in ACI group and in control group(P<0.05). Conclusion The LCAT 608C/T polymorphism is possibly a predisposing factor in ACI happening of Chinese Han population. T allele frequency is possibly concerned with the metabolism of HDL-C.