Type

Journal Article

Authors

Derek Morris
Aiden Corvin
Michael Gill

Subjects

Psychiatry

Topics
general rare genes society individuals neuroscience schizophrenia mutation population

Evidence that duplications of 22q11.2 protect against schizophrenia. (2014)

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.
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Full list of authors on original publication

Derek Morris, Aiden Corvin, Michael Gill

Experts in our system

1
Derek Morris
Trinity College Dublin
Total Publications: 150
 
2
Aiden Corvin
Trinity College Dublin
Total Publications: 190
 
3
Michael Gill
Trinity College Dublin
Total Publications: 260