Research Papers:
Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women
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Abstract
Yan Yu1,*, Bingjian Lu2,*, Weiguo Lu3, Shuang Li4, Xiuqin Li5, Xinyu Wang3, Xiaoyun Wan3, Yaxia Chen3, Suwen Feng3, Yao Jia4, Ru Yang4, Fangxu Tang4, Xiong Li4, Shulan Zhang5, Xinyan Wang5, Heng Wei5, Zhilan Peng6, Lin Lu6, Huizhen Zhong7, Linjun Zhao7, Zhangqian Huang8, Lin Lin9, Weihong Shen9, Yan Lu3,10, Zhu Cao1, Jian Zou1, Yuejiang Ma1, Xiaojing Chen1, Qifang Tian3, Shiming Lu11, Pengyuan Liu10,12, Ding Ma4, Xing Xie3 and Xiaodong Cheng3
1Key Laboratory of Women’s Reproductive Health of Zhejiang Province, Women’s Hospital School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China
2Department of Surgical Pathology, Women’s Hospital School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China
3Department of Gynecologic Oncology, Women’s Hospital School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China
4Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China
5Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China
6Department of Obstetrics and Gynecology, West China Second Hospital of Sichuan University, Chengdu, Sichuan, China
7Department of Obstetrics and Gynecology, Ningbo Women and Children’s Hospital, Ningbo, Zhejiang, China
8Department of Obstetrics and Gynecology, Shaoxing Women and Children Hospital, Shaoxing, Zhejiang, China
9Zhejiang University Hospital, Zhejiang University, Hangzhou, Zhejiang, China
10Institute for Translational Medicine School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China
11Department of Clinical Laboratory, Women’s Hospital School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China
12Sir Run Run Shaw Hospital School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China
*These authors have contributed equally to this work
Correspondence to:
Xiaodong Cheng, email: [email protected]
Xing Xie, email: [email protected]
Ding Ma, email: [email protected]
Pengyuan Liu, email: [email protected]
Keywords: genomics, whole-exome sequencing, complete hydatidiform mole, pathogenesis
Received: March 31, 2017 Accepted: July 29, 2017 Published: September 08, 2017
ABSTRACT
Complete hydatidiform mole (CHM) is a rare pregnancy-related disease with invasive potential. The genetics underlying the sporadic form of CHM have not been addressed previously, but maternal genetic variants may be involved in biparental CHM. We performed whole-exome sequencing of 51 patients with CHM and 47 healthy women to identify genetic variants associated with CHM. In addition, candidate variants were analyzed using single base extension and Matrix Assisted Laser Desorption/Ionization-Time of Flight Mass Spectrometry in 199 CHM patients and 400 healthy controls. We validated candidate variants using Sanger sequencing in 250 cases and 652 controls, including 205 new controls. Two single nucleotide polymorphisms, c.G48C(p.Q16H) inERC1 and c.G1114A(p.G372S) in KCNG4, were associated with an increased risk of CHM (p<0.05). These variants may contribute to the pathogenesis of CHM and could be used to screen pregnant women for this genetic abnormality.
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PII: 20769