No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia

Ruderfer, Doug, Lim, Elaine T, Genovese, Giulio, Moran, Jennifer L, Hultman, Christina M, Sullivan, Patrick F, McCarroll, Steven A, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Sklar, Pamela and Purcell, Shaun M 2015. No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia. European Journal of Human Genetics 23 (4) , p. 555. 10.1038/ejhg.2014.228

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Abstract

Recessive inheritance of gene disrupting alleles, either through homozygosity at a specific site or compound heterozygosity, have been demonstrated to underlie many Mendelian diseases and some complex psychiatric disorders. On the basis of exome sequencing data, an increased burden of complete knockout (homozygous or compound heterozygous) variants has been identified in autism. In addition, using single-nucleotide polymorphism microarray data, an increased rate of homozygosity by descent, or autozygosity, has been linked to the risk of schizophrenia (SCZ). Here, in a large Swedish case-control SCZ sample (11 244 individuals, 5079 of whom have exome sequence data available), we survey the contribution of both autozygosity and complete knockouts to disease risk. We do not find evidence for association with SCZ, either genome wide or at specific loci. However, we note the possible impact of sample size and population genetic factors on the power to detect and quantify any burden that may exist.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine Advanced Research Computing @ Cardiff (ARCCA) MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Systems Immunity Research Institute (SIURI)
Subjects:	R Medicine > R Medicine (General) R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher:	Nature Publishing Group
ISSN:	1018-4813
Last Modified:	28 Oct 2022 09:31
URI:	https://orca.cardiff.ac.uk/id/eprint/74812

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