Ontology highlight
ABSTRACT:
SUBMITTER: Rees E
PROVIDER: S-EPMC3873028 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Rees E E Kirov G G Sanders A A Walters J T R JT Chambert K D KD Shi J J Szatkiewicz J J O'Dushlaine C C Richards A L AL Green E K EK Jones I I Davies G G Legge S E SE Moran J L JL Pato C C Pato M M Genovese G G Levinson D D Duan J J Moy W W Göring H H H HH Morris D D Cormican P P Kendler K S KS O'Neill F A FA Riley B B Gill M M Corvin A A Craddock N N Sklar P P Hultman C C Sullivan P F PF Gejman P V PV McCarroll S A SA O'Donovan M C MC Owen M J MJ
Molecular psychiatry 20131112 1
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 ...[more]