全外显子组测序揭示了中国汉族女性中与完全性葡萄胎相关的ERC1和KCNG4基因变异。
Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.
作者信息
Yu Yan, Lu Bingjian, Lu Weiguo, Li Shuang, Li Xiuqin, Wang Xinyu, Wan Xiaoyun, Chen Yaxia, Feng Suwen, Jia Yao, Yang Ru, Tang Fangxu, Li Xiong, Zhang Shulan, Wang Xinyan, Wei Heng, Peng Zhilan, Lu Lin, Zhong Huizhen, Zhao Linjun, Huang Zhangqian, Lin Lin, Shen Weihong, Lu Yan, Cao Zhu, Zou Jian, Ma Yuejiang, Chen Xiaojing, Tian Qifang, Lu Shiming, Liu Pengyuan, Ma Ding, Xie Xing, Cheng Xiaodong
机构信息
Key Laboratory of Women's Reproductive Health of Zhejiang Province, Women's Hospital School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Department of Surgical Pathology, Women's Hospital School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
出版信息
Oncotarget. 2017 Sep 8;8(43):75264-75271. doi: 10.18632/oncotarget.20769. eCollection 2017 Sep 26.
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) in and c.G1114A(p.G372S) in , were associated with an increased risk of CHM (<0.05). These variants may contribute to the pathogenesis of CHM and could be used to screen pregnant women for this genetic abnormality.
完全性葡萄胎（CHM）是一种罕见的具有侵袭潜能的妊娠相关疾病。散发性CHM的遗传学基础此前尚未得到探讨，但母系基因变异可能与双亲性CHM有关。我们对51例CHM患者和47名健康女性进行了全外显子组测序，以鉴定与CHM相关的基因变异。此外，在199例CHM患者和400名健康对照中，使用单碱基延伸和基质辅助激光解吸/电离飞行时间质谱分析了候选变异。我们在250例病例和652名对照（包括205名新对照）中使用桑格测序法验证了候选变异。两个单核苷酸多态性，即中的c.G48C（p.Q16H）和中的c.G1114A（p.G372S），与CHM风险增加相关（<0.05）。这些变异可能有助于CHM的发病机制，可用于对孕妇进行这种基因异常的筛查。
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