Common variant at 16p11.2 conferring risk of psychosis
| Data(s) |
01/01/2014
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| Resumo |
Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association (GWA) study, meta-analysis and follow-up (totaling as many as 18,206 cases and 42,536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7,469 bipolar disorder cases, 1,535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46,160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T], OR = 1.08, P = 6.6 × 10−11). The new variant is located within a 593 kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P = 0.0039 in the public GIANT consortium dataset; P = 0.00047 in 22,651 additional Icelanders). |
| Identificador | |
| Idioma(s) |
eng |
| Direitos |
info:eu-repo/semantics/closedAccess |
| Fonte |
Steinberg , S , de Jong , S , Mattheisen , M , Costas , J , Demontis , D , Jamain , S , Pietiläinen , O P H , Lin , K , Papiol , S , Huttenlocher , J , Sigurdsson , E , Vassos , E , Giegling , I , Breuer , R , Fraser , G , Walker , N , Melle , I , Djurovic , S , Agartz , I , Tuulio-Henriksson , A , Suvisaari , J , Lönnqvist , J , Paunio , T , Olsen , L , Hansen , T , Ingason , A , Pirinen , M , Strengman , E , Hougaard , D M , Orntoft , T , Didriksen , M , Hollegaard , M V , Nordentoft , M , Abramova , L , Kaleda , V , Arrojo , M , Sanjuán , J , Arango , C , Etain , B , Bellivier , F , Méary , A , Schürhoff , F , Szoke , A , Ribolsi , M , Magni , V , Siracusano , A , Sperling , S , Rossner , M , Christiansen , C , Kiemeney , L A , Franke , B , van den Berg , L H , Veldink , J , Curran , S , Bolton , P , Poot , M , Staal , W , Rehnstrom , K , Kilpinen , H , Freitag , C M , Meyer , J , Magnusson , P , Saemundsen , E , Martsenkovsky , I , Bikshaieva , I , Martsenkovska , I , Vashchenko , O , Raleva , M , Paketchieva , K , Stefanovski , B , Durmishi , N , Pejovic Milovancevic , M , Lecic Tosevski , D , Silagadze , T , Naneishvili , N , Mikeladze , N , Surguladze , S , Vincent , J B , Farmer , A , Mitchell , P B , Wright , A , Schofield , P R , Fullerton , J M , Montgomery , G W , Martin , N G , Rubino , I A , van Winkel , R , Kenis , G , De Hert , M , Réthelyi , J M , Bitter , I , Terenius , L , Jönsson , E G , Bakker , S , van Os , J , Jablensky , A , Leboyer , M , Bramon , E , Powell , J , Murray , R , Corvin , A , Gill , M , Morris , D , O'Neill , F A , Kendler , K , Riley , B , Craddock , N , Owen , M J , O'Donovan , M C , Thorsteinsdottir , U , Kong , A , Ehrenreich , H , Carracedo , A , Golimbet , V , Andreassen , O A , Børglum , A D , Mors , O , Mortensen , P B , Werge , T , Ophoff , R A , Nöthen , M M , Rietschel , M , Cichon , S , Ruggeri , M , Tosato , S , Palotie , A , St Clair , D , Rujescu , D , Collier , D A , Stefansson , H , Stefansson , K & GROUP 2014 , ' Common variant at 16p11.2 conferring risk of psychosis ' Molecular Psychiatry , vol 19 , no. 1 , pp. 108-114 . DOI: 10.1038/mp.2012.157 |
| 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 |
