Abstract
Congenital heart diseases (CHD) are a large group of prevalent and complex anatomic malformations of the heart, with the genetic basis remaining largely unknown. Since genes or factors associated with the differentiation of human embryonic stem (HES) cells would affect the development of all embryonic tissues, including cardiac progenitor cells, we postulated their potential roles in CHD. In this study, we focused on ZW10, a kinetochore protein involved in the process of proper chromosome segregation, and conducted comparative studies between CHD patients and normal controls matched in gender and age in Chinese Han populations. We identified three variations in the ZW10 gene, including rs2885987, rs2271261 and rs2459976, which all had high genetic heterozygosity. Association analysis of these genetic variations with CHD showed correlation between rs2459976 and the risk of CHD. We conclude that rs2459976 in the ZW10 gene is associated with CHD in Chinese Han populations.
Highlights
Congenital heart diseases (CHDs) are a large group of prevalent and complex anatomic malformations of the heart, with the incidence of about 7.5% in newborns [1], and about 1% of the CHD patients would require clinical intervention [2]
Since genes or factors associated with the differentiation of human embryonic stem (HES) cells would affect the development of all embryonic tissues, including cardiac progenitor cells, we postulated their potential roles in CHD
We focused on ZW10, a kinetochore protein involved in the process of proper chromosome segregation, and conducted comparative studies between CHD patients and normal controls matched in gender and age in Chinese Han populations
Summary
Congenital heart diseases (CHDs) are a large group of prevalent and complex anatomic malformations of the heart, with the incidence of about 7.5% in newborns [1], and about 1% of the CHD patients would require clinical intervention [2]. STX18 is involved in several cell processes, such as transporting vesicle membrane fusion with target compartments in the cellular activities [16] and forming complexes with cell cycle-related proteins [17, 18] These findings suggest that genes associated with cellular genesis processes may affect the development of all embryonic tissues, including cardiac progenitor cells and might be associated with the pathogenesis of CHDs. For example, the kinetochore protein ZW10 plays key roles in the cell cycle, especially at the cell division stage, so we postulated the potential involvement of ZW10 in CHD. We compared the gene sequences between 300 Chinese Han CHD patients and 600 controls and found that the variation rs2459976 in the ZW10 gene was associated with the risk of CHD
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