Golestan University of Medical Sciences Repository

Is there any association between the MEF2A gene changes and coronary artery disease?

Omidi, S. and Ghasemi, S. and Kalayinia, S. (2020) Is there any association between the MEF2A gene changes and coronary artery disease? Acta Medica Iranica, 58 (8). pp. 366-375.

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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. © 2020 Tehran University of Medical Sciences. All rights reserved.

Item Type: Article
Additional Information: cited By 0
Uncontrolled Keywords: calcineurin binding protein 1; creatine kinase; enolase; glutamate receptor interacting protein 1; glutamic acid; histone deacetylase 5; histone deacetylase 9; myocyte enhancer factor 2a; polyglutamine; protein; Smad2 protein; unclassified drug, amino acid substitution; Article; articular cartilage; cell differentiation; computer model; coronary artery disease; gene deletion; gene expression; gene insertion; gene interaction; gene mutation; genetic variability; heart infarction; human; morbidity; mortality; pathogenicity; phenotype; prediction; protein protein interaction; protein structure; single nucleotide polymorphism
Subjects: سیستم قلب وعروق WG
آسیب شناسی QZ
مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 05 Jan 2021 10:27
Last Modified: 05 Jan 2021 10:27
URI: http://eprints.goums.ac.ir/id/eprint/10901

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