Iqbal M Perwaiz, Mahmood Saeed, Mehboobali Naseema, Ishaq Mohammad, Fatima Tasnim, Parveen Saddiqa, Frossard Philippe
Department of Biological and Biomedical Sciences, Faculty of Health Sciences, The Aga Khan University, Karachi-74800, Pakistan.
Exp Mol Med. 2004 Apr 30;36(2):110-5. doi: 10.1038/emm.2004.16.
The angiotensin converting enzyme (ACE) is a strong candidate gene for myocardial infarction (MI). Insertion-deletion dimorphism in intron 16 of this gene has been inconclusively found to be associated with it. Several new polymorphisms in the ACE gene have been identified and among these, a dimorphism in exon 17, ACE G2350A, has a significant effect on plasma ACE concentrations. To assess the value of genotyping the ACE G2350A dimorphism in a genetically homogeneous population, we carried out a case-control study of dimorphism G2350A for a putative association with MI among Pakistani nationals. We investigated a sample population of 370 Pakistanis, comprising 163 controls, and 207 patients with clinical diagnosis of acute MI (AMI). ACE G2350A alleles were visualized by assays based on polymerase chain reaction and restriction endonuclease analysis. Frequencies of G alleles were 0.68 among controls and 0.72 among AMI patients. The ACE G2350A dimorphism showed no significant association with MI (chi2 = 0.90, 2 df, P = 0.64), plasma levels of homocysteine (P = 0.52) or with serum levels of folate (P = 0.299). The results indicate that ACE G2350A polymorphism is not associated with risk of myocardial infarction in the Pakistani population investigated here.
血管紧张素转换酶（ACE）是心肌梗死（MI）的一个重要候选基因。该基因第16内含子的插入-缺失二态性与心肌梗死的相关性尚未明确。ACE基因已发现了几种新的多态性，其中第17外显子的二态性ACE G2350A对血浆ACE浓度有显著影响。为了评估在基因同质人群中对ACE G2350A二态性进行基因分型的价值，我们针对巴基斯坦国民中该二态性与心肌梗死的假定关联开展了一项病例对照研究。我们调查了370名巴基斯坦人的样本群体，包括163名对照者和207名临床诊断为急性心肌梗死（AMI）的患者。通过基于聚合酶链反应和限制性内切酶分析的检测方法来观察ACE G2350A等位基因。对照者中G等位基因频率为0.68，AMI患者中为0.72。ACE G2350A二态性与心肌梗死（χ2 = 0.90，自由度为2，P = 0.64）、血浆同型半胱氨酸水平（P = 0.52）或血清叶酸水平（P = 0.299）均无显著关联。结果表明，在此研究的巴基斯坦人群中，ACE G2350A多态性与心肌梗死风险无关。
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