Evidence that duplications of 22q11.2 protect against schizophrenia

  title={Evidence that duplications of 22q11.2 protect against schizophrenia},
  author={Elliott Rees and George Kirov and A R Sanders and James T R Walters and Kimberley D. Chambert and Jianxin Shi and Jin P. Szatkiewicz and Colm O'Dushlaine and Alexander L. Richards and Emma Green and Ilenna Jones and Gail Davies and Sophie E Legge and Jeffrey L. Moran and Carlos N. Pato and Michele T. Pato and Giulio Genovese and D F Levinson and Jinqiao Duan and Winton Moy and Harald H. H. G{\"o}ring and Derek W. Morris and Paul Cormican and Kenneth S. Kendler and Francis Anthony O'Neill and Brien P. Riley and malcolm. gill and Aiden P. Corvin and Nick J. Craddock and Pamela Sklar and Christina M. Hultman and Patrick F. Sullivan and Pablo V. Gejman and Steven A. McCarroll and Michael C. O'Donovan and Michael J Owen},
  booktitle={Molecular Psychiatry},
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… CONTINUE READING

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Analysis of copy number variations at 15 schizophrenia-associated loci

The British journal of psychiatry : the journal of mental science • 2014

ome - wide significant associations in schizophrenia to ITIH 3 / 4 , CACNA 1 C and SDCCAG 8 , and extensive replication of associations reported by the Schizophrenia PGC

ML Hamshere, Walters JTR, +3 authors D Grozeva
Mol Psychiatry • 2012

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