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

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Pubmed体系：

收录情况： ◇ SCIE

作者：
Yu, Yan[1] * ; Lu, Bingjian[2] ; Lu, Weiguo[3] ; Li, Shuang[4] ; Li, Xiuqin[5] ; Wang, Xinyu[3] ; Wan, Xiaoyun[3] ; Chen, Yaxia[3] ; Feng, Suwen[3] ; Jia, Yao[4] ; Yang, Ru[4] ; Tang, Fangxu[4] ; Li, Xiong[4] ; Zhang, Shulan[5] ; Wang, Xinyan[5] ; Wei, Heng[5] ; Peng, Zhilan[6] ; Lu, Lin[6] ; Zhong, Huizhen[7] ; Zhao, Linjun[7] ; Huang, Zhangqian[8] ; Lin, Lin[9] ; Shen, Weihong[9] ; Lu, Yan[3,10] ; Cao, Zhu[1] ; Zou, Jian[1] ; Ma, Yuejiang[1] ; Chen, Xiaojing[1] ; Tian, Qifang[3] ; Lu, Shiming[11] ; Liu, Pengyuan[10,12] ; Ma, Ding[4] ; Xie, Xing[3] ; Cheng, Xiaodong[3] ;
单位： [1]Zhejiang Univ, Womens Hosp, Key Lab Womens Reprod Hlth Zhejiang Prov, Sch Med, Hangzhou, Zhejiang, Peoples R China [2]Zhejiang Univ, Womens Hosp, Dept Surg Pathol, Sch Med, Hangzhou, Zhejiang, Peoples R China [3]Zhejiang Univ, Womens Hosp, Dept Gynecol Oncol, Sch Med, Hangzhou, Zhejiang, Peoples R China [4]Huazhong Univ Sci & Technol, Tongji Hosp, Dept Obstet & Gynecol, Tongji Med Coll, Wuhan, Hubei, Peoples R China [5]China Med Univ, Dept Obstet & Gynecol, Shengjing Hosp, Shenyang, Liaoning, Peoples R China [6]Sichuan Univ, Dept Obstet & Gynecol, West China Hosp 2, Chengdu, Sichuan, Peoples R China [7]Ningbo Women & Childrens Hosp, Dept Obstet & Gynecol, Ningbo, Zhejiang, Peoples R China [8]Shaoxing Women & Children Hosp, Dept Obstet & Gynecol, Shaoxing, Zhejiang, Peoples R China [9]Zhejiang Univ, Zhejiang Univ Hosp, Hangzhou, Zhejiang, Peoples R China [10]Zhejiang Univ, Inst Translat Med, Sch Med, Hangzhou, Zhejiang, Peoples R China [11]Zhejiang Univ, Womens Hosp, Dept Clin Lab, Sch Med, Hangzhou, Zhejiang, Peoples R China [12]Zhejiang Univ, Sir Run Run Shaw Hosp, Sch Med, Hangzhou, Zhejiang, Peoples R China
出处：
DOI： 10.18632/oncotarget.20769

关键词： genomics whole-exome sequencing complete hydatidiform mole pathogenesis

摘要：
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.

基金：
Zhejiang Science and Technology Bureau [2012C24029]; Zhejiang Financial Bureau [N20110531, LY16H160010]; Projects in the National Science & Technology Pillar Program [2015BAI 13B05]
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2016]版：
大类 | 1 区 医学
小类 | 2 区 细胞生物学 2 区 肿瘤学
最新[2025]版：
无
JCR分区：
出版当年[2015]版：
Q1 CELL BIOLOGY Q1 ONCOLOGY
最新[2023]版：
无

影响因子： 最新[2023版] 最新五年平均 出版当年[2015版] 出版当年五年平均 出版前一年[2014版] 出版后一年[2016版]

第一作者：
第一作者单位： [1]Zhejiang Univ, Womens Hosp, Key Lab Womens Reprod Hlth Zhejiang Prov, Sch Med, Hangzhou, Zhejiang, Peoples R China
通讯作者：
通讯机构： [10]Zhejiang Univ, Inst Translat Med, Sch Med, Hangzhou, Zhejiang, Peoples R China [12]Zhejiang Univ, Sir Run Run Shaw Hosp, Sch Med, Hangzhou, Zhejiang, Peoples R China
推荐引用方式(GB/T 7714)：
Yu Yan,Lu Bingjian,Lu Weiguo,et al.Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women[J].ONCOTARGET.2017,8(43):75264-75271.doi:10.18632/oncotarget.20769.
APA：
Yu, Yan,Lu, Bingjian,Lu, Weiguo,Li, Shuang,Li, Xiuqin...&Cheng, Xiaodong.(2017).Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.ONCOTARGET,8,(43)
MLA：
Yu, Yan,et al."Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women".ONCOTARGET 8..43(2017):75264-75271

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