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[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死的相关性]

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

作者信息

Zhu Xiao-yan, Xu Hong-wei, Hou Rong-yao, Liu Heng-fang, Xiao Bo, Yang Xiao-su, Yang Qi-dong, Tang Bei-sha

机构信息

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P. R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Aug;23(4):419-22.

PMID:16883530
Abstract

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.

摘要

目的

探讨卵磷脂胆固醇酰基转移酶基因(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死发生的相关性。

方法

采用聚合酶链反应(PCR)、单链构象多态性(SSCP)及限制性片段长度多态性(RFLP)技术,对150例动脉粥样硬化性脑梗死患者和122例年龄、性别相匹配的健康对照者进行LCAT基因608C/T多态性检测。

结果

LCAT 608C/T基因多态性分布符合Hardy-Weinberg平衡。动脉粥样硬化性脑梗死组CT基因型频率(14.0%)和T等位基因频率(7.0%)显著高于对照组(P<0.05)。动脉粥样硬化性脑梗死组和对照组中,608CC亚组高密度脂蛋白胆固醇(HDL-C)浓度均显著高于608CT亚组(P<0.05)。

结论

LCAT 608C/T多态性可能是中国汉族人群发生动脉粥样硬化性脑梗死的一个易感因素。T等位基因频率可能与HDL-C的代谢有关。

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Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol.对一个奠基人群中103个冠心病候选基因及相关表型进行基因分析,发现内皮素-1与高密度脂蛋白胆固醇之间存在新的关联。
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