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

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.