卵磷脂胆固醇酰基转移酶基因多态性与动脉粥样硬化性脑梗死的研究  

Relationship of lecithin-cholesterol acyltransferase gene polymorphism with atherosclerotic cerebral infarction

作　　者：朱晓岩 侯荣耀[2] 许宏伟[3] 姜德波 杨晶 肖波[3] 杨期东[3] 唐北沙[3] 

机构地区：[1]青岛阜外医院神经内科,青岛266000 [2]青岛市海慈医院神经内科 [3]中南大学湘雅医院神经内科

出　　处：《中华老年心脑血管病杂志》2008年第9期677-679,共3页Chinese Journal of Geriatric Heart,Brain and Vessel Diseases

基　　金：国家自然科学基金(30370514)

摘　　要：目的探讨卵磷脂胆固醇酰基转移酶(LCAT)基因511C/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死(ACI)的关系。方法应用PCR、单链构象多态性技术和DNA测序法检测ACI患者150例(ACI组)和健康体检者122例(对照组)LCAT511C/T多态性。根据基因多态性将ACI组分为2个亚组,511CC组(135例)和511CT组(15例)。结果LCAT第四外显子511位点存在多态现象,此多态位点C/T在ACI组和对照组均符合Hardy-Weinberg平衡定律。ACI组CT基因型频率、T等位基因频率均显著高于对照组(P<0.01)。511CC组HDL-C水平高于511CT组(P<0.05)。结论LCAT第四外显子511C/T多态性可能为中国汉族人群ACI易感因素,T等位基因可能与HDL-C代谢有关。Objective To explore the distribution of lecithin： cholesterol acyltransferase gene （LCAT）511C/T polymorphism in Chinese Han population and the relation of the polymorphism with the occurrence of atherosclerotic cerebral infarction（ACI）. Methods The LCAT 511C/T polymorphism was identified by PCR, single-strand conformation polymorphism technique and DNA sequencing in 150 patients with ACI and 122 healthy controls matched in age and sex. Re- sults Polymorphism existed in the 511 situs of the fourth extron in LCAT. The 511C/T gene polymorphism was distributed in accordance with Hardy-Weinberg equilibrium. The CT genotypic frequency and T allele frequency in ACI group were significantly higher than those in control group （P 〈0.01）. The concentration of high density lipoprotein cholesterol（HDL-C） in 511CC subgroup was significantly higher than that in 511CT subgroup in ACI group （P〈0.05）. Conclusions The LCAT 511C/T polymorphism is possibly a predisposing factor of ACI in Chinese Han population. T allele frequency is possibly related to the metabolism of HDL-C.

关 键 词：磷脂酰胆碱-甾醇 O-酰基转移酶 多态现象(遗传学) 动脉硬化 脑梗塞 基因频率 

分 类 号：R543[医药卫生—心血管疾病]