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巴基斯坦患者中血管紧张素原(AGT,M235T)rs699和血管紧张素Ⅱ受体1型(AGTR1,A1166C)rs5186基因变异谱及其与冠状动脉疾病的关联

Spectrum of AGT (M235T) rs699 and AGTR1 (A1166C) rs5186 gene variants and its association with coronary artery disease in Pakistani patients.

作者信息

Ahmed Syed Tousif, Nasir Muhammad Israr, Amir Kanwal Fatima, Siddiqui Pirzada Qasim Raza

机构信息

Syed Tousif Ahmed, MBBS, M.Phil Professor & Head, Department of Physiology, Ziauddin University, Karachi, Pakistan.

Muhammad Israr Nasir, M.Sc. PhD. Associate Prof Molecular Pathology, Department of Molecular Pathology, Fizaiya Ruth Pfau Medical College Karachi Campus, Air University Islamabad, Pakistan.

出版信息

Pak J Med Sci. 2025 Apr;41(4):1151-1156. doi: 10.12669/pjms.41.4.9993.

DOI:10.12669/pjms.41.4.9993
PMID:40290236
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12022596/
Abstract

BACKGROUND AND OBJECTIVE

Coronary artery disease (CAD) is a multifaceted ailment influenced by genetic and acquired factors. In this study we tried to determine the association of CAD with polymorphisms in renin-angiotensin-aldosterone system (RAAS) genes AGT(M235T) rs699 and AGTRI(A1166C) rs5186.

METHOD

This case-control study was conducted at Ziauddin University and National Institute of Cardiovascular Diseases Karachi from January, 2019 to June, 2020. It included 239 participants between 30-70years from both genders via convenient sampling. The participants were divided into two groups of 160 controls and 79 angiographically diagnosed CAD patients. Genotyping of AGT(M235T) and AGTRI(A1166C) was investigated by the allele-specific polymerase chain reaction (AS-PCR). Statistical analysis was done using SPSS Version-22. Independent sample t-test was applied for comparison of quantitative variables. The AGT(M235T) and AGRT1(A1166) genes were compared by Chi- square test.

RESULTS

There was no significant association found between CAD and AGT(M235T) gene variants CC, CT and TT (p=0.3; p=0.1; p=0.6 respectively). AGTRI(A1166) of AA and CC variety showed significant association with CAD(p<0.001), while its AC variant showed no significant association with the disease. The odds of CC of AGRT1(A1166C) having CAD were 14 times more, whereas having CAD with AA of AGRT1(A1166C) were 70% less.

CONCLUSION

Individuals with CC polymorphisms of AGTRI(A1166) gene are 14 times more likely to develop CAD, whereas those with AA variation are less likely to develop the disease. AC variation of the AGTRI(A1166) gene along with all variations of the AGT(M235T) gene were not associated with development of CAD.

摘要

背景与目的

冠状动脉疾病(CAD)是一种受遗传和后天因素影响的多方面疾病。在本研究中,我们试图确定CAD与肾素 - 血管紧张素 - 醛固酮系统(RAAS)基因AGT(M235T)rs699和AGTRI(A1166C)rs5186多态性之间的关联。

方法

本病例对照研究于2019年1月至2020年6月在齐亚丁大学和卡拉奇国家心血管疾病研究所进行。通过方便抽样纳入了239名年龄在30至70岁之间的男女参与者。参与者被分为两组,160名对照者和79名经血管造影诊断的CAD患者。通过等位基因特异性聚合酶链反应(AS-PCR)研究AGT(M235T)和AGTRI(A1166C)的基因分型。使用SPSS 22版进行统计分析。应用独立样本t检验比较定量变量。通过卡方检验比较AGT(M235T)和AGRT1(A1166)基因。

结果

在CAD与AGT(M235T)基因变体CC、CT和TT之间未发现显著关联(p分别为0.3;0.1;0.6)。AGTRI(A1166)的AA和CC变体与CAD显示出显著关联(p<0.001),而其AC变体与疾病无显著关联。AGRT1(A1166C)的CC患CAD的几率高14倍,而AGRT1(A1166C)的AA患CAD的几率低70%。

结论

AGTRI(A1166)基因CC多态性的个体患CAD的可能性高14倍,而具有AA变异的个体患该病的可能性较小。AGTRI(A1166)基因的AC变异以及AGT(M235T)基因的所有变异均与CAD的发生无关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61a4/12022596/99133840e618/PJMS-41-1151-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61a4/12022596/d6cf0c4adff6/PJMS-41-1151-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61a4/12022596/99133840e618/PJMS-41-1151-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61a4/12022596/d6cf0c4adff6/PJMS-41-1151-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61a4/12022596/99133840e618/PJMS-41-1151-g002.jpg

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