| Literature DB >> 30290141 |
Siyang Liu1, Shujia Huang2, Fang Chen3, Lijian Zhao4, Yuying Yuan4, Stephen Starko Francis5, Lin Fang4, Zilong Li6, Long Lin6, Rong Liu4, Yong Zhang4, Huixin Xu4, Shengkang Li4, Yuwen Zhou7, Robert W Davies8, Qiang Liu4, Robin G Walters9, Kuang Lin9, Jia Ju4, Thorfinn Korneliussen10, Melinda A Yang11, Qiaomei Fu12, Jun Wang4, Lijun Zhou4, Anders Krogh13, Hongyun Zhang4, Wei Wang4, Zhengming Chen9, Zhiming Cai14, Ye Yin4, Huanming Yang15, Mao Mao4, Jay Shendure16, Jian Wang17, Anders Albrechtsen18, Xin Jin19, Rasmus Nielsen20, Xun Xu21.
Abstract
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.Entities:
Keywords: genome-wide association study; low-pass sequencing; non-invasive prenatal testing; plasma virome; population genetics
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Year: 2018 PMID： 30290141 DOI： 10.1016/j.cell.2018.08.016
Source DB: PubMed Journal: Cell ISSN： 0092-8674 Impact factor: 66.850