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Acta Medica Iranica، جلد ۵۸، شماره ۸، صفحات ۳۶۶-۳۷۵
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عنوان انگلیسی Is There Any Association Between the MEF2A Gene Changes and Coronary Artery Disease?
چکیده انگلیسی مقاله Coronary artery disease (CAD) is a common multifactorial disease with a high rate of morbidity and mortality worldwide. The MEF2A gene transcription factor belongs to the myocyte enhancer factor-2 (MEF2) family and is involved in critical processes such as calcium-dependent signaling pathways and cardiac development. Although the variants of the MEF2A gene were studied in different CAD and myocardial infarction (MI) populations, the reality of this gene association with CAD is still unclear. This study reports the first in silico investigation on MEF2A variants. All reported variants in CAD/MI patients were collected from eleven countries. Their pathogenicity and variant position conservation were surveyed by online prediction tools, including Mutation-Taster, Polyphen-2, PROVEAN, SIFT, CADD, and GERP. In silico analysis did not confirm the pathogenic effect of 21-bp deletion, which was introduced as a monogenic cause of CAD. c.704C>A (p.S235Y), c.812C>G (p.P271R), c.836C>T (p.P279L) and c.848G>A (p.G283D) missenses, c.1315C>T (p.R439X) nonsense, and seven out-of-frame deletions were predicted as disease-causing variants. Although some variants of the MEF2A gene affect protein structure, the MEF2A variation studies in CAD/MI patients and in silico analysis do not approve the association and pathogenicity of MEF2A variants in the familial/sporadic CAD.
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نویسندگان مقاله | Soodeh Omidi
Department of Genetic, Faculty of Advanced Medical Technologies, Golestan University of Medical Sciences, Gorgan, Iran.


| Serwa Ghasemi
Department of Biology, School of Basic Sciences, Islamic Azad University Research Tehran Branch, Tehran, Iran.


| Samira Kalayinia
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
نشانی اینترنتی https://acta.tums.ac.ir/index.php/acta/article/view/8344
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