Balkan Journal of Medical Genetics

SINGLE-NUCLEOTIDE POLYMORPHISMS IN EXONIC AND PROMOTER REGIONS OF TRANSCRIPTION FACTORS OF SECOND HEART FIELD ASSOCIATED WITH SPORADIC CONGENITAL CARDIAC ANOMALIES
Wang E, Fan X, Nie Y, Zheng Z, Hu S,
*Corresponding Author: Shengshou Hu M. D., Cardiac Surgery Department, Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Xicheng District, Beijing, 100037, China, Tel & Fax: 86-010-88322325 E-mail: shengshouh@sina.cn
page: 39

INTRODUCTION

Congenital cardiac anomalies are the main cause of infant death and the most common birth defect worldwide (1). Patients with sporadic congenital heart disease (CHD) account for approximately 80% of CHD patients (2). Depending on the different anatomic or pathophysiological changes, CHD can be divided into 21 different forms, including simple common forms of CHD (1) and moderate and severe forms of CHD (1). Although the incidence rate of CHD is high and its clinical symptoms are obvious, its etiology is still unclear in most patients (3). Cardiac progenitor cells from the second heart field (SHF) participate in the development of linear cardiac tubes when the cardiac tube becomes the four-chambered heart (4). More than 10 transcription factors, including GATA5 (GenBank accession no. NM_080473), MEF2C (GenBank accession no. NM_002397), SYMD1 (GenBank accession no. NM_198274), and TBX20 (GenBank accession no. NM_001166220), contribute to SHF development by controlling the proliferation and differentiation of cardiac progenitor cells (5). The knockout of these genes could lead to different types of CHD in mice (6-9). Many exonic mutations of SHF transcription factors (GATA5, MEF2C, SYMD1, and TBX20) are related to CHD in humans (10-13). However, the underlying genetic pathogenesis of CHD remains unclear. In this study, we reveal that minor alleles of ten exonic and promoter single nucleotide polymorphisms (SNPs) located in SHF transcription factors increase sporadic CHD risk.

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