Abstract
Coronary artery ectasia (CAE), defined as a 1.5-fold or greater enlargement of a coronary artery segment compared to the adjacent normal coronary artery, is frequently associated with atherosclerotic coronary artery disease (CAD). Membrane-bound endothelin converting enzyme-1 (ECE-1) is involved in the maturation process of the most potent vasoconstrictor ET-1. Polymorphisms in the endothelin (ET) gene family have been shown associated with the development of atherosclerosis. This study aims to investigate the effects of rs213045 and rs2038089 polymorphisms in the ECE-1 gene which have been previously shown to be associated with atherosclerosis and hypertension (HT), in CAE patients. Ninety-six CAE and 175 patients with normal coronary arteries were included in the study. ECE-1b gene variations rs213045 and rs2038089 were determined by real-time PCR. The frequencies of rs213045 C > A (C338A) CC genotype (60.4% vs. 35.4%, p < 0.001) and rs2038089 T > C T allele (64.58% vs. 35.42%, p = 0.017) were higher in the CAE group compared to the control group. The multivariate regression analysis showed that the ECE-1b rs213045 CC genotype (p = 0.001), rs2038089 T allele (p = 0.017), and hypercholesterolemia (HC) (p = 0.001) are risk factors for CAE. Moreover, in nondiabetic individuals of the CAE and control groups, it was observed that the rs213045 CC genotype (p < 0.001), and rs2038089 T allele (p = 0.003) were a risk factor for CAE, but this relationship was not found in the diabetic subgroups of the study groups (p > 0.05). These results show that ECE-1b polymorphisms may be associated with the risk of CAE and this relationship may change according to the presence of type II diabetes.
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Data Availability
The datasets generated during and analyzed during the current study are available from the corresponding author on reasonable request.
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The present study was supported by the Istanbul University Scientific Research Projects Unit (Project No: TSA-2018-30548 and TYO-2019-32124).
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HYA designed the study, OSS, OK, SND, AY participated in the examination of patients, collected clinical samples and data, EIA, FM, CA and GO prepared and processed biological samples and performed laboratory work, HYA analyzed the data, HYA and OO interpreted the data, GO prepared the manuscript for publication and OO, AY, HYA reviewed the draft of the manuscript. All authors have read and reviewed the manuscript.
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Ozkara, G., Aslan, E.I., Malikova, F. et al. Endothelin-converting Enzyme-1b Genetic Variants Increase the Risk of Coronary Artery Ectasia. Biochem Genet (2024). https://doi.org/10.1007/s10528-024-10810-9
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DOI: https://doi.org/10.1007/s10528-024-10810-9