Evidence that duplications of 22q11.2 protect against schizophrenia
dc.contributor.author | Rees, E | |
dc.contributor.author | Kirov, G | |
dc.contributor.author | Sanders, A | |
dc.contributor.author | Walters, JTR | |
dc.contributor.author | Chambert, KD | |
dc.contributor.author | Shi, J | |
dc.contributor.author | Szatkiewicz, J | |
dc.contributor.author | O'Dushlaine, C | |
dc.contributor.author | Richards, AL | |
dc.contributor.author | Green, Elaine | |
dc.contributor.author | Jones, I | |
dc.contributor.author | Davies, G | |
dc.contributor.author | Legge, SE | |
dc.contributor.author | Moran, JL | |
dc.contributor.author | Pato, C | |
dc.contributor.author | Pato, M | |
dc.contributor.author | Genovese, G | |
dc.contributor.author | Levinson, D | |
dc.contributor.author | Duan, J | |
dc.contributor.author | Moy, W | |
dc.contributor.author | Göring, HHH | |
dc.contributor.author | Morris, D | |
dc.contributor.author | Cormican, P | |
dc.contributor.author | Kendler, KS | |
dc.contributor.author | O'Neill, FA | |
dc.contributor.author | Riley, B | |
dc.contributor.author | Gill, M | |
dc.contributor.author | Corvin, A | |
dc.contributor.author | Craddock, N | |
dc.contributor.author | Sklar, P | |
dc.contributor.author | Hultman, C | |
dc.contributor.author | Sullivan, PF | |
dc.contributor.author | Gejman, PV | |
dc.contributor.author | McCarroll, SA | |
dc.contributor.author | O'Donovan, MC | |
dc.contributor.author | Owen, MJ | |
dc.date.accessioned | 2017-08-30T07:46:24Z | |
dc.date.available | 2017-08-30T07:46:24Z | |
dc.date.issued | 2014-01 | |
dc.identifier.issn | 1359-4184 | |
dc.identifier.issn | 1476-5578 | |
dc.identifier.uri | http://hdl.handle.net/10026.1/9877 | |
dc.description.abstract |
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. | |
dc.format.extent | 37-40 | |
dc.format.medium | Print-Electronic | |
dc.language | en | |
dc.language.iso | eng | |
dc.publisher | Springer Science and Business Media LLC | |
dc.subject | 22q11.2 | |
dc.subject | CNV | |
dc.subject | duplication | |
dc.subject | protective | |
dc.subject | schizophrenia | |
dc.title | Evidence that duplications of 22q11.2 protect against schizophrenia | |
dc.type | journal-article | |
dc.type | Journal Article | |
dc.type | Research Support, N.I.H., Extramural | |
dc.type | Research Support, Non-U.S. Gov't | |
plymouth.author-url | https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000328964700010&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=11bb513d99f797142bcfeffcc58ea008 | |
plymouth.issue | 1 | |
plymouth.volume | 19 | |
plymouth.publication-status | Published | |
plymouth.journal | Molecular Psychiatry | |
dc.identifier.doi | 10.1038/mp.2013.156 | |
plymouth.organisational-group | /Plymouth | |
plymouth.organisational-group | /Plymouth/Faculty of Health | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine/UoA01 Clinical Medicine | |
plymouth.organisational-group | /Plymouth/Research Groups | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED) | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED)/CBR | |
plymouth.organisational-group | /Plymouth/Users by role | |
dc.publisher.place | England | |
dcterms.dateAccepted | 2013-09-25 | |
dc.identifier.eissn | 1476-5578 | |
dc.rights.embargoperiod | No embargo | |
rioxxterms.versionofrecord | 10.1038/mp.2013.156 | |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2014-01 | |
rioxxterms.type | Journal Article/Review |