KMS Institute of Vertebrate Paleontology and Paleoanthropology
| Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History | |
| Liu, Siyang1,2; Huang, Shujia1,3; Chen, Fang1,24,25; Zhao, Lijian1; Yuan, Yuying1; Francis, Stephen Starko4,5; Fang, Lin1; Li, Zilong6; Lin, Long6; Liu, Rong1; Zhang, Yong1; Xu, Huixin1; Li, Shengkang1; Zhou, Yuwen1,6; Davies, Robert W.7; Liu, Qiang1; Walters, Robin G.8,9; Lin, Kuang8,9; Ju, Jia1; Komeliussen, Thorfinn10; Yang, Melinda A.11; Fu, Qiaomei11,12,13; Wang, Jun1; Zhou, Lijun1; Krogh, Anders2; Zhang, Hongyun1; Wang, Wei1; Chen, Zhengming8,9; Cai, Zhiming14,15,16; Yin, Ye1; Yang, Huanming1,17; Mao, Mao1; Shendure, Jay18,19,20; Wang, Jian1,17; Albrechtsen, Anders2; Jin, Xin1,3; Nielsen, Rasmus21,22,23; Xu, Xun1 | |
| 2018-10-04 | |
| 发表期刊 | CELL
 |
| ISSN | 0092-8674 |
| 卷号 | 175期号:2页码:347-+ |
| 摘要 | We analyze whole-genome sequencing data from 141,431 Chinese women generated for non-invasive prenatal testing (NIPT). We use these data to characterize the population genetic structure and to investigate genetic associations with maternal and infectious traits. We show that the present day distribution of alleles is a function of both ancient migration and very recent population movements. We reveal novel phenotype-genotype associations, including several replicated associations with height and BMI, an association between maternal age and EMB, and between twin pregnancy and NRG1. Finally, we identify a unique pattern of circulating viral DNA in plasma with high prevalence of hepatitis B and other clinically relevant maternal infections. A GWAS for viral infections identifies an exceptionally strong association between integrated herpesvirus 6 and MOV10L1, which affects piwi-interacting RNA (piRNA) processing and PIWI protein function. These findings demonstrate the great value and potential of accumulating NIPT data for worldwide medical and genetic analyses. |
| DOI | 10.1016/j.cell.2018.08.016 |
| 关键词[WOS] | GENERATION SEQUENCING DATA ; EXPRESSION GTEX PROJECT ; WIDE ASSOCIATION ; GENOTYPE IMPUTATION ; POSITIVE SELECTION ; GWAS CATALOG ; HAN CHINESE ; EAST-ASIA ; DISEASE ; DISCOVERY |
| 收录类别 | SCI |
| 语种 | 英语 |
| 资助项目 | Natural Science Foundation of Guangdong Province, China[2017A030306026] ; Funds for Distinguished Young Scholar of South China University of China[2017JQ017] ; Funds for Industrial PhD by Innovation Fund Denmark[4135-00130B] |
| WOS研究方向 | Biochemistry & Molecular Biology ; Cell Biology |
| WOS类目 | Biochemistry & Molecular Biology ; Cell Biology |
| WOS记录号 | WOS:000446321300009 |
| 出版者 | CELL PRESS |
| 引用统计 | |
| 文献类型 | 期刊论文 |
| 条目标识符 | http://119.78.100.205/handle/311034/8996 |
| 专题 | 中国科学院古脊椎动物与古人类研究所 |
| 通讯作者 | Wang, Jian; Albrechtsen, Anders; Jin, Xin; Nielsen, Rasmus; Xu, Xun |
| 作者单位 | 1.BGI Shenzhen, Shenzhen 518083, Guangdong, Peoples R China 2.Univ Copenhagen, Dept Biol, Bioinformat Ctr, DK-2200 Copenhagen, Denmark 3.South China Univ Technol, Sch Med, Guangzhou 510006, Guangdong, Peoples R China 4.Univ Nevada, Div Epidemiol, Reno, NV 89557 USA 5.Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA 6.Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Guangdong, Peoples R China 7.Hosp Sick Children, Ctr Appl Genom Genet & Genome Biol, Toronto, ON M6H 3W4, Canada 8.Univ Oxford, Nuffield Dept Populat Hlth, Clin Trial Serv Unit, Oxford OX3 7LF, England 9.Univ Oxford, Nuffield Dept Populat Hlth, Epidemiol Studies Unit, Oxford OX3 7LF, England 10.Univ Cambridge, Dept Zool, Downing St, Cambridge CB2 3EJ, England 11.Chinese Acad Sci, Inst Vertebrate Paleontol & Paleoanthropol, Key Lab Vertebrate Evolut & Human Origins, Beijing 100044, Peoples R China 12.Chinese Acad Sci, Ctr Excellence Life & Paleoenvironm, Beijing 100044, Peoples R China 13.Univ Chinese Acad Sci, Beijing 100049, Peoples R China 14.Shenzhen Univ, Shenzhen Peoples Hosp 2, Affiliated Hosp 1, Dept Urol Surg, Shenzhen 518035, Guangdong, Peoples R China 15.Guangdong Key Lab Syst Biol & Synthet Biol Urogen, Shenzhen 518035, Guangdong, Peoples R China 16.Shenzhen Univ, Carson Int Canc Ctr, Shenzhen 518060, Guangdong, Peoples R China 17.James D Watson Inst Genome Sci, Hangzhou 310058, Zhejiang, Peoples R China 18.Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA 19.Howard Hughes Med Inst, Seattle, WA 98195 USA 20.Brotman Baty Inst Precis Med, Seattle, WA 98195 USA 21.Univ Calif Berkeley, Dept Integrat Biol, Berkeley, CA 94720 USA 22.Univ Copenhagen, Ctr GeoGenet, Nat Hist Museum Denmark, DK-1350 Copenhagen, Denmark 23.Univ Calif Berkeley, Dept Stat, Berkeley, CA 94720 USA 24.Univ Copenhagen, Dept Biol, Lab Genom & Mol Biomed, DK-2100 Copenhagen, Denmark 25.BGI Changyuan, Xinxiang 453400, Henan, Peoples R China |
| 推荐引用方式 GB/T 7714 | Liu, Siyang,Huang, Shujia,Chen, Fang,et al. Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History[J]. CELL,2018,175(2):347-+. |
| APA | Liu, Siyang.,Huang, Shujia.,Chen, Fang.,Zhao, Lijian.,Yuan, Yuying.,...&Xu, Xun.(2018).Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History.CELL,175(2),347-+. |
| MLA | Liu, Siyang,et al."Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History".CELL 175.2(2018):347-+. |
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