Evidence that duplications of 22q11.2 protect against schizophrenia
Date
2014-01Author
Rees, E
Kirov, G
Sanders, A
Walters, JTR
Chambert, KD
Shi, J
Szatkiewicz, J
O'Dushlaine, C
Richards, AL
Green, Elaine
Jones, I
Davies, G
Legge, SE
Moran, JL
Pato, C
Pato, M
Genovese, G
Levinson, D
Duan, J
Moy, W
Göring, HHH
Morris, D
Cormican, P
Kendler, KS
O'Neill, FA
Riley, B
Gill, M
Corvin, A
Craddock, N
Sklar, P
Hultman, C
Sullivan, PF
Gejman, PV
McCarroll, SA
O'Donovan, MC
Owen, MJ
Subject
22q11.2 CNV duplication protective schizophrenia
Metadata
Show full item recordAbstract
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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Publisher
Springer Science and Business Media LLC
Place of Publication
England
Journal
Molecular Psychiatry
Volume
19
Issue
1
Pagination
37-40
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