Research Papers:

Rs2459976 in ZW10 gene associated with congenital heart diseases in Chinese Han population

Chao-Yu Sun, Chi Sun, Rui Cheng, Shuai Shi, Ying Han, Xue-Qi Li, Ji-Xin Zhi, Fei-Feng Li _ and Shu-Lin Liu

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Oncotarget. 2018; 9:3867-3874. https://doi.org/10.18632/oncotarget.23240

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Chao-Yu Sun1,2,*, Chi Sun1,2,*, Rui Cheng2, Shuai Shi2, Ying Han1,2, Xue-Qi Li2, Ji-Xin Zhi2, Fei-Feng Li1,3 and Shu-Lin Liu1,3,4

1Systemomics Center, College of Pharmacy and Genomics Research Center, State-Province Key Laboratory of Biopharmaceutical Engineering, Harbin Medical University, Harbin, China

2Department of Cardiology, Fourth Affiliated Hospital, Harbin Medical University, Harbin, China

3Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Heilongjiang, China

4Department of Microbiology, Immunology and Infectious Diseases, University of Calgary, Calgary, Canada

*These authors contributed equally to this work

Correspondence to:

Fei-Feng Li, email: [email protected]

Ji-Xin Zhi, email: [email protected]

Shu-Lin Liu, email: [email protected]

Keywords: congenital heart disease; ZW10; human embryonic stem cells; SNP; ASD

Received: October 17, 2017     Accepted: December 01, 2017     Published: December 13, 2017


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.

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