Genome-wide burden of deleterious coding variants increased in schizophrenia

Loohuis, Loes M. Olde, Vorstman, Jacob A. S., Ori, Anil P., Staats, Kim A., Wang, Tina, Richards, Alexander L., Leonenko, Ganna M ORCID: https://orcid.org/0000-0001-8025-661X, Walters, James Tynan Rhys ORCID: https://orcid.org/0000-0002-6980-4053, DeYoung, Joseph, Kahn, René S., Linszen, Don, Os, Jim van, Wiersma, Durk, Bruggeman, Richard, Cahn, Wiepke, Haan, Lieuwe de, Krabbendam, Lydia, Myin-Germeys, Inez, Cantor, Rita M., Ophoff, Roel A. and Richards, Alexander 2015. Genome-wide burden of deleterious coding variants increased in schizophrenia. Nature Communications 6 , 7501. 10.1038/ncomms8501

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Abstract

Schizophrenia is a common complex disorder with polygenic inheritance. Here we show that by using an approach that compares the individual loads of rare variants in 1,042 schizophrenia cases and 961 controls, schizophrenia cases carry an increased burden of deleterious mutations. At a genome-wide level, our results implicate non-synonymous, splice site as well as stop-altering single-nucleotide variations occurring at minor allele frequency of ≥ 0.01% in the population. In an independent replication sample of 5,585 schizophrenia cases and 8,103 controls of European ancestry we confirm an enrichment in cases of the alleles identified in our study. In addition, the ge

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Nature Publishing Group
ISSN:	2041-1723
Date of Acceptance:	14 May 2015
Last Modified:	17 Nov 2022 11:23
URI:	https://orca.cardiff.ac.uk/id/eprint/80984

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