Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1016/j.cell.2018.08.016

Type

Journal article

Journal

Cell

Publication Date

04/10/2018

Volume

175

Pages

347 - 359.e14

Keywords

genome-wide association study, low-pass sequencing, non-invasive prenatal testing, plasma virome, population genetics, Adult, Alleles, Asian Continental Ancestry Group, China, DNA, Ethnic Groups, Female, Gene Frequency, Genetic Testing, Genetic Variation, Genetics, Population, Genome-Wide Association Study, Genomics, Human Migration, Humans, Pregnancy, Prenatal Diagnosis, Sequence Analysis, DNA