Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women

Yan Yu; Bingjian Lu; Weiguo Lu; Shuang Li; Xiuqin Li; Xinyu Wang; Xiaoyun Wan; Yaxia Chen; Suwen Feng; Yao Jia; Ru Yang; Fangxu Tang; Xiong Li; Shulan Zhang; Xinyan Wang; Heng Wei; Zhilan Peng; Lin Lu; Huizhen Zhong; Linjun Zhao; Zhangqian Huang; Lin Lin; Weihong Shen; Yan Lu; Zhu Cao; Jian Zou; Yuejiang Ma; Xiaojing Chen; Qifang Tian; Shiming Lu; Pengyuan Liu; Ding Ma; Xing Xie; Xiaodong Cheng

doi:10.18632/oncotarget.20769

Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women

Yan Yu
, Bingjian Lu
, Weiguo Lu
, Shuang Li
, Xiuqin Li
, Xinyu Wang
, Xiaoyun Wan
, Yaxia Chen
, Suwen Feng
, Yao Jia
, Ru Yang
, Fangxu Tang
, Xiong Li
, Shulan Zhang
, Xinyan Wang
, Heng Wei
, Zhilan Peng
, Lin Lu
, Huizhen Zhong
, Linjun Zhao

Zhangqian Huang, Lin Lin, Weihong Shen, Yan Lu, Zhu Cao, Jian Zou, Yuejiang Ma, Xiaojing Chen, Qifang Tian, Shiming Lu, Pengyuan Liu, Ding Ma, Xing Xie, Xiaodong Cheng

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

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.

Original language	English (US)
Pages (from-to)	75264-75271
Number of pages	8
Journal	Oncotarget
Volume	8
Issue number	43
DOIs	https://doi.org/10.18632/oncotarget.20769
State	Published - 2017
Externally published	Yes

Keywords

Complete hydatidiform mole
Genomics
Pathogenesis
Whole-exome sequencing

ASJC Scopus subject areas

Oncology

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10.18632/oncotarget.20769

Cite this

Yu, Y., Lu, B., Lu, W., Li, S., Li, X., Wang, X., Wan, X., Chen, Y., Feng, S., Jia, Y., Yang, R., Tang, F., Li, X., Zhang, S., Wang, X., Wei, H., Peng, Z., Lu, L., Zhong, H., ... Cheng, X. (2017). Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women. Oncotarget, 8(43), 75264-75271. https://doi.org/10.18632/oncotarget.20769

Yu, Y, Lu, B, Lu, W, Li, S, Li, X, Wang, X, Wan, X, Chen, Y, Feng, S, Jia, Y, Yang, R, Tang, F, Li, X, Zhang, S, Wang, X, Wei, H, Peng, Z, Lu, L, Zhong, H, Zhao, L, Huang, Z, Lin, L, Shen, W, Lu, Y, Cao, Z, Zou, J, Ma, Y, Chen, X, Tian, Q, Lu, S, Liu, P, Ma, D, Xie, X & Cheng, X 2017, 'Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women', Oncotarget, vol. 8, no. 43, pp. 75264-75271. https://doi.org/10.18632/oncotarget.20769

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title = "Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women",

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.",

keywords = "Complete hydatidiform mole, Genomics, Pathogenesis, Whole-exome sequencing",

author = "Yan Yu and Bingjian Lu and Weiguo Lu and Shuang Li and Xiuqin Li and Xinyu Wang and Xiaoyun Wan and Yaxia Chen and Suwen Feng and Yao Jia and Ru Yang and Fangxu Tang and Xiong Li and Shulan Zhang and Xinyan Wang and Heng Wei and Zhilan Peng and Lin Lu and Huizhen Zhong and Linjun Zhao and Zhangqian Huang and Lin Lin and Weihong Shen and Yan Lu and Zhu Cao and Jian Zou and Yuejiang Ma and Xiaojing Chen and Qifang Tian and Shiming Lu and Pengyuan Liu and Ding Ma and Xing Xie and Xiaodong Cheng",

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AU - Yu, Yan

AU - Lu, Bingjian

AU - Lu, Weiguo

AU - Li, Shuang

AU - Li, Xiuqin

AU - Wang, Xinyu

AU - Wan, Xiaoyun

AU - Chen, Yaxia

AU - Feng, Suwen

AU - Jia, Yao

AU - Yang, Ru

AU - Tang, Fangxu

AU - Li, Xiong

AU - Zhang, Shulan

AU - Wang, Xinyan

AU - Wei, Heng

AU - Peng, Zhilan

AU - Lu, Lin

AU - Zhong, Huizhen

AU - Zhao, Linjun

AU - Huang, Zhangqian

AU - Lin, Lin

AU - Shen, Weihong

AU - Lu, Yan

AU - Cao, Zhu

AU - Zou, Jian

AU - Ma, Yuejiang

AU - Chen, Xiaojing

AU - Tian, Qifang

AU - Lu, Shiming

AU - Liu, Pengyuan

AU - Ma, Ding

AU - Xie, Xing

AU - Cheng, Xiaodong

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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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KW - Genomics

KW - Pathogenesis

KW - Whole-exome sequencing

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ER -

Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women

Abstract

Keywords

ASJC Scopus subject areas

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