Article Dans Une Revue Molecular Psychiatry Année : 2014

Common variant at 16p11.2 conferring risk of psychosis

S Steinberg (1) , S de Jong (2) , M Mattheisen (3, 4, 5) , J Costas (6) , D Demontis (7, 8) , S Jamain (9, 10) , O P H Pietiläinen (11, 12) , K Lin (13, 14) , S Papiol (15, 16) , J Huttenlocher (1, 17) , E Sigurdsson (18, 19) , E Vassos (14) , I Giegling (20) , R Breuer (21, 22) , G Fraser (23) , N Walker (24) , I Melle (25) , S Djurovic (25, 26) , I Agartz (26, 25) , A Tuulio-Henriksson (27, 11) , J Suvisaari (27, 11) , J Lönnqvist (27, 11) , T Paunio (27, 11) , L Olsen (28) , T Hansen (28) , A Ingason (28) , M Pirinen (29) , E Strengman (30) , D M Hougaard (31) , T Orntoft (32) , M Didriksen (33) , M V Hollegaard (31) , M Nordentoft (8, 28) , L Abramova (34) , V Kaleda (34) , M Arrojo (6) , J Sanjuán (35) , C Arango (36, 37) , B Etain (9, 10, 38) , F Bellivier (9, 10, 38, 39) , A Méary (9, 10, 38) , F Schürhoff (39, 38, 10, 9) , A Szoke (38, 10, 9) , M Ribolsi (40) , V Magni (40) , A Siracusano (40) , S Sperling (15) , M Rossner (15) , C Christiansen (41) , L A Kiemeney (42) , B Franke (42) , L H van den Berg (43, 30) , J Veldink (43, 30) , S Curran (14) , P Bolton (14) , M Poot (30) , W Staal (42) , K Rehnstrom (11, 12) , H Kilpinen (11, 12) , C M Freitag (44) , J Meyer (45) , P Magnusson (18) , E Saemundsen (46) , I Martsenkovsky (47) , I Bikshaieva (47) , I Martsenkovska (47) , O Vashchenko (47) , M Raleva (48) , K Paketchieva (48) , B Stefanovski (48) , N Durmishi (48) , M Pejovic Milovancevic (49) , D Lecic Tosevski (49) , T Silagadze (50) , N Naneishvili (50) , N Mikeladze (50) , S Surguladze (51) , J B Vincent (52) , A Farmer (14) , P B Mitchell (53, 54) , A Wright (53, 54) , P R Schofield (55, 54) , J M Fullerton (55, 54) , G W Montgomery (56) , N G Martin (56) , I A Rubino (40) , R van Winkel (57, 58) , G Kenis (59, 58) , M de Hert (57) , J M Réthelyi (60) , I Bitter (60) , L Terenius (61) , E G Jönsson (61) , S Bakker (30, 43) , J van Os (58) , A Jablensky (62) , M Leboyer (9, 38, 39, 10) , E Bramon (63) , J Powell (13, 14) , R Murray (13, 14) , A Corvin (64) , M Gill (64) , D Morris (64) , F A O'Neill (65) , K Kendler (66) , B Riley (66) , N Craddock (67) , M J Owen (67) , M C O'Donovan (67) , U Thorsteinsdottir (19, 1) , A Kong (1) , H Ehrenreich (15) , A Carracedo (68) , V Golimbet (69) , O A Andreassen (70, 25) , a D Børglum (7, 8) , O Mors (8, 7) , P B Mortensen (8, 7) , T Werge (8, 71) , R A Ophoff (2, 30) , M M Nöthen (5) , M Rietschel (21, 22) , S Cichon (5) , M Ruggeri (72) , S Tosato (72) , A Palotie (11, 12, 73, 27) , D St Clair (23) , D Rujescu (20, 74) , D A Collier (14, 75) , H Stefansson (1) , K Stefansson (1, 19)
1 deCODE genetics [Reykjavik]
2 UCLA - University of California [Los Angeles]
3 Brigham and Women's Hospital [Boston]
4 HMS - Harvard Medical School [Boston]
5 Universität Bonn = University of Bonn
6 Complexo Hospitalario Universitario de Santiago
7 Aarhus University [Aarhus]
8 iPSYCH - The Lundbeck Foundation Initiative for Integrative Psychiatric Research
9 IMRB - Institut Mondor de Recherche Biomédicale
10 Fondation FondaMental [Créteil]
11 Helsingin yliopisto = Helsingfors universitet = University of Helsinki
12 The Wellcome Trust Sanger Institute [Cambridge]
13 NIHR Biomedical Research Centre [London]
14 King‘s College London
15 MPI - Max Planck Institute of Experimental Medicine [Göttingen]
16 DFG Research Center for Molecular Physiology of the Brain
17 Universitätsklinikum Tübingen = University Hospital of Tuebingen
18 Landspitali National University Hospital of Iceland
19 University of Iceland [Reykjavik]
20 LMU - Ludwig Maximilian University [Munich] = Ludwig Maximilians Universität München
21 NEUROSPIN - Service NEUROSPIN
22 University of Heidelberg, Medical Faculty
23 University of Aberdeen
24 Ravenscraig Hospital [Greenock, UK]
25 UiO - University of Oslo
26 Oslo University Hospital [Oslo]
27 HUS - Helsinki University Hospital [Finland]
28 KUH - Copenhagen University Hospital [Denmark] = Københavns Universitetshospital [Danmark]
29 University of Oxford
30 UMCU - University Medical Center [Utrecht]
31 Statens Serum Institut [Copenhagen]
32 Aarhus University Hospital
33 Lundbeck SAS
34 BPH - Bordeaux population health
35 UPV - Universitat Politècnica de València = Universitad Politecnica de Valencia = Polytechnic University of Valencia
36 Hospital General Universitario "Gregorio Marañón" [Madrid]
37 Facultad de Veterinaria, Universidad Complutense
38 CHU Henri Mondor [Créteil]
39 UPE - Université Paris-Est
40 Università degli Studi di Roma Tor Vergata [Roma, Italia] = University of Rome Tor Vergata [Rome, Italy] = Université de Rome Tor Vergata [Rome, Italie]
41 Nordic Bioscience [Herlev, Denmark]
42 RadboudUMC - Radboud University Medical Center [Nijmegen]
43 Rudolf Magnus Institute of Neuroscience
44 Goethe University Frankfurt = Goethe-Universität Frankfurt am Main
45 Uni Trier - Trier Universität = Trier University = Université de Trèves [Allemagne]
46 State Diagnostic and Counseling Centre [ Kopavogur, Iceland]
47 UkrCPRI - Ukrainian Research Institute of the civil protection
48 University Children’s Hospital [Skopje, Macédoine]
49 University of Belgrade [Belgrade]
50 TSMU - Tbilisi State Medical University
51 ILIAUNI - Ilia State University [Tbilisi]
52 CAMH - Centre for Addiction and Mental Health [Toronto]
53 Prince of Wales Hospital
54 UNSW - University of New South Wales [Sydney]
55 NeuRA - Neuroscience Research Australia
56 Queensland Institute of Medical Research
57 KU Leuven - Catholic University of Leuven = Katholieke Universiteit Leuven
58 MUMC - Maastricht University Medical Centre
59 South Limburg Public Health Service
60 Semmelweis University [Budapest]
61 Karolinska Institutet = Karolinska Institute [Stockholm]
62 UWA - The University of Western Australia
63 UCL - University College London [UCL]
64 Trinity College Dublin
65 School of Psychology, University of Queensland
66 VCU - Virginia Commonwealth University
67 Cardiff University
68 USC - Universidade de Santiago de Compostela [España] = University of Santiago de Compostela [Spain] = Université de Saint-Jacques-de-Compostelle [Espagne]
69 RAMS - Russian Academy of Medical Sciences [Moscow, Russia]
70 KG Jebsen Brain Tumor Research Center
71 UCPH - Københavns Universitet = University of Copenhagen = Université de Copenhague
72 UNIVR - Università degli studi di Verona = University of Verona
73 BROAD INSTITUTE - Broad Institute of MIT and Harvard
74 University of Halle-Wittenberg
75 Eli Lilly and Company Limited [Windlesham]
M Pirinen
  • Fonction : Auteur
M Didriksen
  • Fonction : Auteur
M Gill
  • Fonction : Auteur
N Craddock
  • Fonction : Auteur
M J Owen
  • Fonction : Auteur

Résumé

Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association 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 7469 bipolar disorder cases, 1535 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]; odds ratio=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 data set; P=0.00047 in 22 651 additional Icelanders).

Dates et versions

inserm-04685990 , version 1 (03-09-2024)

Identifiants

Citer

S Steinberg, S de Jong, M Mattheisen, J Costas, D Demontis, et al.. Common variant at 16p11.2 conferring risk of psychosis. Molecular Psychiatry, 2014, 19 (1), pp.108-114. ⟨10.1038/mp.2012.157⟩. ⟨inserm-04685990⟩
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