Saba Nusrat, Rehman Sadia, Munir Saeeda, Noor Amna
Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
Rawalpindi Medical University Rawalpindi, Rawalpindi, Pakistan.
Sci Prog. 2025 Apr-Jun;108(2):368504251338935. doi: 10.1177/00368504251338935. Epub 2025 Apr 27.
ObjectiveThe aim of this study was to investigate the association between angiotensin I converting enzyme gene polymorphism and coronary artery disease in the Pakistani population, given the early onset and aggressive nature of coronary artery disease in this region.MethodsA case-control study was conducted involving 540 Pakistani patients with established coronary artery disease and 224 healthy controls. DNA samples were amplified using polymerase chain reaction with primers targeting the insertion (I)/deletion (D) sites of intron 16 of the angiotensin I converting enzyme gene. The polymerase chain reaction products were analyzed for the presence of 490-bp (II), 190-bp (DD), or both (ID) fragments.ResultsThe frequency of the homozygous insertion (II) genotype was 9% in the control group and 25% in coronary artery disease patients, while the homozygous deletion (DD) genotype was 26% in controls and 24% in patients. A significant association was found between the angiotensin I converting enzyme II genotype and coronary artery disease (odds ratio = 7.963, < 0.0001).ConclusionThe angiotensin I converting enzyme II genotype is significantly associated with an increased risk of coronary artery disease in the Pakistani population, suggesting a potential genetic predisposition to early and aggressive coronary artery disease in this group.
目的鉴于该地区冠状动脉疾病发病早且病情严重，本研究旨在探讨巴基斯坦人群中血管紧张素I转换酶基因多态性与冠状动脉疾病之间的关联。
方法开展一项病例对照研究，纳入540例确诊为冠状动脉疾病的巴基斯坦患者和224例健康对照者。使用聚合酶链反应，以血管紧张素I转换酶基因第16内含子插入（I）/缺失（D）位点为靶点的引物对DNA样本进行扩增。分析聚合酶链反应产物中490bp（II）、190bp（DD）片段或两者均有的情况。
结果对照组中纯合插入（II）基因型的频率为9%，冠状动脉疾病患者中为25%；对照组中纯合缺失（DD）基因型的频率为26%，患者中为24%。血管紧张素I转换酶II基因型与冠状动脉疾病之间存在显著关联（优势比=7.963，<0.0001）。
结论血管紧张素I转换酶II基因型与巴基斯坦人群中冠状动脉疾病风险增加显著相关，提示该人群可能存在早期及侵袭性冠状动脉疾病的潜在遗传易感性。
