Saeed Mohammad, Siddiqui Sammer, Khan Aisha, Butt Zahid A, Parvez S Hasan, Frossard Philippe M
Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.
Neuro Endocrinol Lett. 2005 Aug;26(4):393-6.
The angiotensin converting enzyme gene (ACE) is a candidate gene for an individual's genetic susceptibility to left ventricular hypertrophy (LVH). LVH has long been thought to be an end point of essential hypertension (EH), rather than a separate entity, though it is influenced by a unique set of hormonal, vascular and genetic factors. In this study, we attempted to determine whether two representative polymorphisms of the ACE gene, ACE I/D and 2350 G>A, known to be associated with EH and to influence plasma ACE levels most significantly, could implicate ACE as a quantitative trait locus (QTL) for LVH. We carried out a retrospective, case-control study of the two ACE polymorphisms amongst 180 nationals (50 LVH patients and 130 controls) from the United Arab Emirates--an ethnic group characterized by no alcohol intake and no cigarette smoking--for correlations with LVH. Clinical diagnosis of LVH was based on echocardiographic and ECG criteria. ACE I/D and 2350 G>A genotypes were determined by PCR and restriction digestion. Univariate and multivariate logistic regression analyses revealed an association between ACE polymorphisms and LVH. Haplotype analysis further supported this finding. ACE I/D and ACE 2350 G>A polymorphisms are in strong linkage disequilibrium and are associated with LVH, suggesting that ACE is likely to be a QTL for LVH.
血管紧张素转换酶基因(ACE)是个体对左心室肥厚(LVH)遗传易感性的候选基因。长期以来,LVH一直被认为是原发性高血压(EH)的一个终点,而非一个独立的实体,尽管它受到一组独特的激素、血管和遗传因素的影响。在本研究中,我们试图确定ACE基因的两个代表性多态性,即已知与EH相关且对血浆ACE水平影响最为显著的ACE I/D和2350 G>A,是否可将ACE作为LVH的数量性状基因座(QTL)。我们对来自阿拉伯联合酋长国的180名国民(50例LVH患者和130名对照)进行了一项关于这两种ACE多态性的回顾性病例对照研究,该国民族的特点是不饮酒且不吸烟,以研究它们与LVH的相关性。LVH的临床诊断基于超声心动图和心电图标准。通过聚合酶链反应(PCR)和限制性酶切确定ACE I/D和2350 G>A基因型。单因素和多因素逻辑回归分析揭示了ACE多态性与LVH之间的关联。单倍型分析进一步支持了这一发现。ACE I/D和ACE 2350 G>A多态性处于强连锁不平衡状态且与LVH相关,这表明ACE可能是LVH的一个QTL。