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川崎病中血管紧张素转换酶基因的插入/缺失多态性

Insertion/deletion polymorphism of angiotensin converting enzyme gene in Kawasaki disease.

作者信息

Shim Yoon Hee, Kim Hae Soon, Sohn Sejung, Hong Young Mi

机构信息

Department of Pediatrics, College of Medicine, Ewha Womans University, Yangcheon-gu, Seoul, Korea.

出版信息

J Korean Med Sci. 2006 Apr;21(2):208-11. doi: 10.3346/jkms.2006.21.2.208.

Abstract

Polymorphism of angiotensin converting enzyme (ACE) gene is reported to be associated with ischemic heart disease, hypertrophic cardiomyopathy, and idiopathic dilated cardiomyopathy. In this study, we investigated the relationship between Kawasaki disease and insertion/deletion polymorphism of ACE gene. Fifty five Kawasaki disease patients and 43 healthy children were enrolled. ACE genotype was evaluated from each of the subjects' DNA fragments through polymerase chain reaction (PCR). Frequencies of ACE genotypes (DD, ID, II) were 12.7%, 60.0%, 27.3% in Kawasaki group, and 41.9%, 30.2%, 27.9% in control group respectively, indicating low rate of DD and high rate of ID genotype among Kawasaki patients (p<0.01). Comparing allelic (I, D) frequencies, I allele was more prevalent in Kawasaki group than in control group (57.3% vs. 43.0%, p<0.05). In Kawasaki group, both genotype and allelic frequencies were not statistically different between those with coronary dilatations and those without. ACE gene I/D polymorphism is thought to be associated with Kawasaki disease but not with the development of coronary dilatations.

摘要

据报道,血管紧张素转换酶(ACE)基因多态性与缺血性心脏病、肥厚型心肌病和特发性扩张型心肌病有关。在本研究中,我们调查了川崎病与ACE基因插入/缺失多态性之间的关系。招募了55例川崎病患者和43名健康儿童。通过聚合酶链反应(PCR)从每个受试者的DNA片段评估ACE基因型。川崎病组中ACE基因型(DD、ID、II)的频率分别为12.7%、60.0%、27.3%,对照组中分别为41.9%、30.2%、27.9%,表明川崎病患者中DD基因型频率低,ID基因型频率高(p<0.01)。比较等位基因(I、D)频率,I等位基因在川崎病组中比对照组更普遍(57.3%对43.0%,p<0.05)。在川崎病组中,有冠状动脉扩张者和无冠状动脉扩张者之间的基因型和等位基因频率在统计学上无差异。ACE基因I/D多态性被认为与川崎病有关,但与冠状动脉扩张的发生无关。

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