Evidence that duplications of 22q11.2 protect against schizophrenia

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 dupli...

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Autores principales: 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, Gejman, P V, McCarroll, S A, O'Donovan, M C, Owen, M J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Immediate Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873028/
https://www.ncbi.nlm.nih.gov/pubmed/24217254
http://dx.doi.org/10.1038/mp.2013.156
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author 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
Gejman, P V
McCarroll, S A
O'Donovan, M C
Owen, M J
author_facet 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
Gejman, P V
McCarroll, S A
O'Donovan, M C
Owen, M J
author_sort Rees, E
collection PubMed
description 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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spelling pubmed-38730282013-12-26 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 Gejman, P V McCarroll, S A O'Donovan, M C Owen, M J Mol Psychiatry Immediate Communication 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. Nature Publishing Group 2014-01 2013-11-12 /pmc/articles/PMC3873028/ /pubmed/24217254 http://dx.doi.org/10.1038/mp.2013.156 Text en Copyright © 2014 Macmillan Publishers Limited http://creativecommons.org/licenses/by/3.0/ This work is licensed under a Creative Commons Attribution 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by/3.0/
spellingShingle Immediate Communication
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
Gejman, P V
McCarroll, S A
O'Donovan, M C
Owen, M J
Evidence that duplications of 22q11.2 protect against schizophrenia
title Evidence that duplications of 22q11.2 protect against schizophrenia
title_full Evidence that duplications of 22q11.2 protect against schizophrenia
title_fullStr Evidence that duplications of 22q11.2 protect against schizophrenia
title_full_unstemmed Evidence that duplications of 22q11.2 protect against schizophrenia
title_short Evidence that duplications of 22q11.2 protect against schizophrenia
title_sort evidence that duplications of 22q11.2 protect against schizophrenia
topic Immediate Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873028/
https://www.ncbi.nlm.nih.gov/pubmed/24217254
http://dx.doi.org/10.1038/mp.2013.156
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