Sun Chao-Yu, Sun Chi, Cheng Rui, Shi Shuai, Han Ying, Li Xue-Qi, Zhi Ji-Xin, Li Fei-Feng, Liu Shu-Lin
Systemomics Center, College of Pharmacy and Genomics Research Center, State-Province Key Laboratory of Biopharmaceutical Engineering, Harbin Medical University, Harbin, China.
Department of Cardiology, Fourth Affiliated Hospital, Harbin Medical University, Harbin, China.
Oncotarget. 2017 Dec 13;9(3):3867-3874. doi: 10.18632/oncotarget.23240. eCollection 2018 Jan 9.
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 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 gene is associated with CHD in Chinese Han populations.
先天性心脏病（CHD）是一大类常见且复杂的心脏解剖畸形，其遗传基础在很大程度上仍不清楚。由于与人类胚胎干细胞（HES）分化相关的基因或因子会影响包括心脏祖细胞在内的所有胚胎组织的发育，我们推测它们在先天性心脏病中可能发挥作用。在本研究中，我们聚焦于ZW10，一种参与正确染色体分离过程的动粒蛋白，并在中国汉族人群中对先天性心脏病患者和年龄及性别匹配的正常对照进行了比较研究。我们在该基因中鉴定出三个变异，包括rs2885987、rs2271261和rs2459976，它们均具有高遗传杂合性。这些基因变异与先天性心脏病的关联分析显示rs2459976与先天性心脏病风险之间存在相关性。我们得出结论，该基因中的rs2459976与中国汉族人群的先天性心脏病相关。
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