Evidence that duplications of 22q11.2 protect against schizophrenia
| Data(s) |
01/01/2014
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| Resumo |
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. |
| Formato |
application/pdf |
| Identificador |
http://dx.doi.org/10.1038/mp.2013.156 http://pure.qub.ac.uk/ws/files/9495225/Evidence_that_duplications_of_22q11.2_protect_against.pdf |
| Idioma(s) |
eng |
| Direitos |
info:eu-repo/semantics/openAccess |
| Fonte |
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 , Wellcome Trust Case Control Consortium , Craddock , N , Sklar , P , Hultman , C , Sullivan , P F , Gejman , P V , McCarroll , S A , O'Donovan , M C & Owen , M J 2014 , ' Evidence that duplications of 22q11.2 protect against schizophrenia ' Molecular Psychiatry , vol 19 , pp. 37-40 . DOI: 10.1038/mp.2013.156 |
| Palavras-Chave | #/dk/atira/pure/subjectarea/asjc/1300/1312 #Molecular Biology #/dk/atira/pure/subjectarea/asjc/2700/2738 #Psychiatry and Mental health #/dk/atira/pure/subjectarea/asjc/2800/2804 #Cellular and Molecular Neuroscience |
| Tipo |
article |
