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Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder

Published online by Cambridge University Press:  09 July 2009

M. C. O'Donovan ,
C. Guy ,
N. Craddock ,
T. Bowen ,
P. McKeon ,
A. Macedo ,
W. Maier ,
D. Wildenauer ,
H. N. Aschauer  and
S. Sorbi
...Show all authors
M. C. O'Donovan*
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
C. Guy
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
N. Craddock
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
T. Bowen
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
P. McKeon
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
A. Macedo
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
W. Maier
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
D. Wildenauer
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
H. N. Aschauer
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
S. Sorbi
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
E. Feldman
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
L. Mynett-Johnson
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
E. Claffey
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
B. Nacmias
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
J. Valente
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
A. Dourado
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
E. Grassi
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
E. Lenzinger
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
A. M. Heiden
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
S. Moorhead
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
D. Harrison
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
J. Williams
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
P. McGuffin
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
M. J. Owen
Affiliation:
Department of Psychological Medicine and Institute of Medical Genetics, University of Wales College of Medicine, Cardiff and Department of Psychiatry, Queen's Medical Centre, University of Nottingham; Depression Research Unit, St Patrick's Hospital and Trinity College, Dublin, Ireland; Department of Psychiatry, Faculdade de Medicina, Universida de Coimbra, Portugal; Psychiatrische Universitätsklinik, Bonn and Psychiatrische Klinik der Universität Munchen, Germany; Psychiatrische Universitätsklinik, Universität Wien, Austria; and Department of Neurological Science, University of Florence, Italy
*
1Address for correspondence: Dr Michael O'Donovan, Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN.
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Synopsis

Recent studies have suggested that expanded CAG/CTG repeats contribute to the genetic aetiology of schizophrenia and bipolar disorder. However, the nature of this contribution is uncertain and difficult to predict from other known trinucleotide repeat diseases that display much simpler patterns of inheritance. We have sought to replicate and extend earlier findings using Repeat Expansion Detection in an enlarged sample of 152 patients with schizophrenia, 143 patients with bipolar disorder, and 160 controls. We have also examined DNA from the parents of 62 probands with schizophrenia or bipolar disorder. Our results confirm our earlier, preliminary findings of an association between expanded trinucleotide repeats and both schizophrenia and bipolar disorder. However, our data do not support the hypothesis that trinucleotide repeat expansion can alone explain the complex patterns of inheritance of the functional psychoses neither can this mechanism fully explain apparent anticipation.

Type
Original Articles
Information
Psychological Medicine , Volume 26 , Issue 6 , November 1996 , pp. 1145 - 1153
Copyright
Copyright © Cambridge University Press 1996

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