Evidence that duplications of 22q11.2 protect against schizophrenia
- Rees, E
- Kirov, G
- Sanders, A
- Walters, J T R
- Chambert, K D
- Shi, J
- Szatkiewicz, J
- O'Dushlaine, C
- Richards, A L
- Green, E K
- Jones, I
- Davies, G
- Legge, S E
- Moran, J L
- Pato, C
- Pato, M
- Genovese, G
- Levinson, D
- Duan, J
- Moy, W
- Göring, H H H
- Morris, D
- Cormican, P
- Kendler, K S
- O'Neill, F A
- Riley, B
- Gill, M
- Corvin, A
- Craddock, N
- Sklar, P
- Hultman, C
- Sullivan, P F
Publication date
January 2014
DOIAbstract
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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