Format

Send to

Choose Destination
Mol Psychiatry. 2014 Jan;19(1):37-40. doi: 10.1038/mp.2013.156. Epub 2013 Nov 12.

Evidence that duplications of 22q11.2 protect against schizophrenia.

Author information

1
MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
2
1] Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA [2] Department of Psychiatry and Behavioral Sciences, University of Chicago, Chicago, IL, USA.
3
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, USA.
4
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
5
Department of Genetics, University of North Carolina, Chapel Hill, NC, USA.
6
1] MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK [2] School of Biomedical and Biological Sciences, Plymouth University, Plymouth, UK.
7
Department of Psychiatry and Behavioral Science, Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, CA, USA.
8
Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
9
Department of Psychiatry and Behavioral Sciences, NorthShore University HealthSystem, Evanston, IL, USA.
10
Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA.
11
Department of Psychiatry and Neuropsychiatric Genetics Research Group, Institute of Molecular Medicine, Trinity College Dublin, Dublin 2, Ireland.
12
Department of Psychiatry and Human Genetics, Virginia Institute of Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, VA, USA.
13
Department of Psychiatry, Queen's University, Belfast, Northern Ireland.
14
Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
15
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Karolinska, Sweden.
16
1] Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA [2] Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden [3] Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Abstract

A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2--the reciprocal of the well-known, risk-inducing deletion of this locus--are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.

PMID:
24217254
PMCID:
PMC3873028
DOI:
10.1038/mp.2013.156
[Indexed for MEDLINE]
Free PMC Article

Publication types, MeSH terms, Supplementary concept, Grant support

Publication types

MeSH terms

Supplementary concept

Grant support

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center