Article open access publication

Common variant at 16p11.2 conferring risk of psychosis

Molecular Psychiatry, Springer Nature, ISSN 1359-4184

Volume 19, 1, 2014

DOI:10.1038/mp.2012.157, Dimensions: pub.1022589249, PMC: PMC3872086, PMID: 23164818,

Authors

Mattheisen, M (3) (4)
Costas, J (5)
Demontis, D (6) (7)
Jamain, S (8) (9)
Pietiläinen, O P H (10) (11) (12)
Lin, K (13)
Papiol, S (14) (15)
Huttenlocher, J (1) (16)
Sigurdsson, E (17) (18)
Vassos, E (13)
Breuer, R (20)
Fraser, G (21)
Walker, N (22)
Melle, I (23)
Agartz, I (23)
Paunio, T (24)
Olsen, L (25)
Hansen, T (25)
Ingason, A (25)
Pirinen, M (26)
Nordentoft, M (7) (31)
Kaleda, V (32)
Arrojo, M (5)
Arango, C (34)
Etain, B (8) (9) (35)
Bellivier, F (8) (9) (35) (36)
Méary, A (8) (9) (35)
Schürhoff, F (8) (9) (35) (36)
Szoke, A (8) (9) (35)
Ribolsi, M (37)
Magni, V (37)
Rossner, M (14) (15)
Franke, B (40)
Veldink, J (27)
Curran, S (13)
Bolton, P (13)
Poot, M (27)
Staal, W (41)
Rehnstrom, K (11) (12)
Kilpinen, H (11) (12)
Meyer, J (43)
Raleva, M (46)
Lecic Tosevski, D (47) (48)
Farmer, A (13)
Mitchell, P B (52) (53)
Wright, A (52) (53)
Schofield, P R (53) (54)
Fullerton, J M (53) (54)
van Winkel, R (56) (57)
Kenis, G (56)
De Hert, M (57)
Bitter, I (58)
Bakker, S (27)
van Os, J (56)
Leboyer, M (8) (9) (35) (36)
Bramon, E (61)
Powell, J (13)
Murray, R (13)
Corvin, A (62)
Gill, M (62)
Morris, D (62)
Kendler, K (64)
Riley, B (64)
Owen, M J (65)
Kong, A (1)
Ehrenreich, H (14) (15)
Børglum, A D (6) (7) (29)
Mors, O (7) (29)
Mortensen, P B (6) (7)
Werge, T (7) (25)
Ophoff, R A (2) (27)
Nöthen, M M (4) (67)
Cichon, S (4) (68)
Ruggeri, M (69)
Tosato, S (69)
Palotie, A (11) (12) (70)
Rujescu, D (19) (71)
Collier, D A (13) (72)
Stefansson, K * (1) (17)

* Corresponding author

Affiliations

Organisations

  1. (1) deCODE Genetics (Iceland), grid.421812.c
  2. (2) University of California, Los Angeles, grid.19006.3e
  3. (3) Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA
  4. (4) University of Bonn, grid.10388.32
  5. (5) Complejo Hospitalario Universitario de Santiago, grid.411048.8
  6. (6) Aarhus University, grid.7048.b, AU
  7. (7) Lundbeck Foundation, grid.452548.a
  8. (8) Fondation FondaMental, grid.484137.d
  9. (9) French Institute of Health and Medical Research, grid.7429.8
  10. (10) Institute for Health and Welfare, Public Health Genomics Unit, Helsinki, Finland
  11. (11) University of Helsinki, grid.7737.4
  12. (12) Wellcome Sanger Institute, grid.10306.34
  13. (13) King's College London, grid.13097.3c
  14. (14) Max Planck Institute of Experimental Medicine, grid.419522.9
  15. (15) DFG Research Center for Molecular Physiology of the Brain (CMPB), Göttingen, Germany
  16. (16) University of Tübingen, grid.10392.39
  17. (17) University of Iceland, grid.14013.37
  18. (18) National University Hospital of Iceland, grid.410540.4
  19. (19) Ludwig Maximilian University of Munich, grid.5252.0
  20. (20) Central Institute of Mental Health, grid.413757.3
  21. (21) University of Aberdeen, grid.7107.1
  22. (22) Ravenscraig Hospital, Greenock, UK
  23. (23) Division of Mental Health and Addiction, KG Jebsen Centre for Psychosis Research, Institute of Clinical Medicine, University of Oslo, Oslo University Hospital, Oslo, Norway
  24. (24) National Institute for Health and Welfare, grid.14758.3f
  25. (25) University of Copenhagen, grid.5254.6, KU
  26. (26) Wellcome Centre for Human Genetics, grid.270683.8
  27. (27) University Medical Center Utrecht, grid.7692.a
  28. (28) State Serum Institute, grid.6203.7
  29. (29) Aarhus University Hospital, grid.154185.c, Central Denmark Region
  30. (30) Lundbeck (Denmark), grid.424580.f
  31. (31) Psychiatric Center Copenhagen, Copenhagen University Hospital, Copenhagen, Denmark
  32. (32) Department of Medical Sciences, grid.466123.4
  33. (33) University of Valencia, grid.5338.d
  34. (34) Hospital General Universitario Gregorio Marañón, IiSGM, Universidad Complutense, CIBERSAM, Madrid, Spain
  35. (35) Assistance Publique -Hopitaux De Paris, grid.50550.35
  36. (36) Paris 12 Val de Marne University, grid.410511.0
  37. (37) University of Rome Tor Vergata, grid.6530.0
  38. (38) Nordic Bioscience (Denmark), grid.436559.8
  39. (39) Radboud University Nijmegen Medical Centre, grid.10417.33
  40. (40) Departments of Human Genetics and Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  41. (41) Radboud University Nijmegen, grid.5590.9
  42. (42) Goethe University Frankfurt, grid.7839.5
  43. (43) University of Trier, grid.12391.38
  44. (44) State Diagnostic and Counseling Centre, Kopavogur, Iceland
  45. (45) Department of Child, Adolescent Psychiatry and Medical-Social Rehabilitation, Ukrainian Research Institute of Social, Forensic Psychiatry and Drug Abuse, Kyiv, Ukraine
  46. (46) Saints Cyril and Methodius University of Skopje, grid.7858.2
  47. (47) Institute of Mental Health, grid.488909.4
  48. (48) University of Belgrade, grid.7149.b
  49. (49) Tbilisi State Medical University, grid.412274.6
  50. (50) Ilia State University, grid.428923.6
  51. (51) Centre for Addiction and Mental Health, grid.155956.b
  52. (52) Prince of Wales Hospital, grid.415193.b
  53. (53) UNSW Sydney, grid.1005.4
  54. (54) Neuroscience Research Australia, grid.250407.4
  55. (55) QIMR Berghofer Medical Research Institute, grid.1049.c
  56. (56) Maastricht University Medical Centre, grid.412966.e
  57. (57) KU Leuven, grid.5596.f
  58. (58) Semmelweis University, grid.11804.3c
  59. (59) Karolinska Institute, grid.4714.6
  60. (60) University of Western Australia, grid.1012.2
  61. (61) University College London, grid.83440.3b
  62. (62) Trinity College Dublin, grid.8217.c
  63. (63) Department of Psychiatry, Queens University, Belfast, UK
  64. (64) Virginia Commonwealth University, grid.224260.0
  65. (65) Cardiff University, grid.5600.3
  66. (66) University of Santiago de Compostela, grid.11794.3a
  67. (67) German Center for Neurodegenerative Diseases, grid.424247.3
  68. (68) Institute of Neurosciences and Medicine (INM-1), Juelich, Germany
  69. (69) University of Verona, grid.5611.3
  70. (70) Broad Institute, grid.66859.34
  71. (71) Martin Luther University Halle-Wittenberg, grid.9018.0
  72. (72) Eli Lilly (United Kingdom), grid.418786.4

Description

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).

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Aarhus University

University of Copenhagen

Danish Open Access Indicator

2014: Unused

Research area: Medicine

Danish Bibliometrics Indicator

2014: Level 2

Research area: Medicine

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Times Cited: 70

Field Citation Ratio (FCR): 8

Relative Citation ratio (RCR): 2.99

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