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ACE I/D 多态性与突尼斯扩张型心肌病患者的相关性。

Association of ACE I/D polymorphism in Tunisian patients with dilated cardiomyopathy.

机构信息

Unité d'Epidémiologie Génétique et Moléculaire, Faculté de Médecine de Tunis, Tunisia.

出版信息

J Renin Angiotensin Aldosterone Syst. 2010 Sep;11(3):187-91. doi: 10.1177/1470320310368874. Epub 2010 May 17.

Abstract

Primary cardiomyopathies are multifactorial diseases. Genetic factors other than the causal mutations in the modified genes affect the phenotypic expression of dilated cardiomyopathy. The aim of this study was to determine the association of angiotensin-converting enzyme I/D polymorphism with the risk of dilated cardiomyopathy in a Tunisian population. A total of 76 patients with dilated cardiomyopathy was compared to 151 ethnically, age- and gender-matched controls. The frequencies of the DD genotype and D allele were significantly higher in patients as compared with controls, and were associated with increased risk of dilated cardiomyopathy (ACE DD versus ID and II: OR = 3.05 (95% CI, 1.58-5.87; p = 0.001)); D versus I: OR = 2 (95% CI: 1.35-2.97; p = 0.001)). No association was found between the combined genotypes (DD+ID) or D allele and left ventricular end diastolic diameter in dilated cardiomyopathy patients with severe and moderate clinical phenotypes. DD genotype and D allele of angiotensin-converting enzyme I/D gene polymorphism are associated with increased risk of dilated cardiomyopathy in a Tunisian population but do not influence the cardiac phenotype severity.

摘要

原发性心肌病是一种多因素疾病。除了修饰基因中的因果突变外,遗传因素也会影响扩张型心肌病的表型表达。本研究旨在确定血管紧张素转换酶 I/D 多态性与扩张型心肌病在突尼斯人群中的风险关联。将 76 名扩张型心肌病患者与 151 名年龄、性别相匹配的对照组进行比较。与对照组相比,DD 基因型和 D 等位基因的频率在患者中明显升高,且与扩张型心肌病的风险增加相关(ACE DD 与 ID 和 II:OR = 3.05(95%CI,1.58-5.87;p = 0.001));D 与 I:OR = 2(95%CI:1.35-2.97;p = 0.001))。在严重和中度临床表型的扩张型心肌病患者中,联合基因型(DD+ID)或 D 等位基因与左心室舒张末期直径之间没有关联。血管紧张素转换酶 I/D 基因多态性的 DD 基因型和 D 等位基因与突尼斯人群中扩张型心肌病的风险增加相关,但不影响心脏表型的严重程度。

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