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ORIGINAL ARTICLE A Point of Rarity in Genetic Risk for Bipolar Disorder and Schizophrenia Detelina Grozeva, MSc; George Kirov, PhD, MRCPsych; Dobril Ivanov, MSc; Ian R. Jones, PhD, MRCPsych; Lisa Jones, PhD; Elaine K. Green, PhD; David M. St Clair, MD, PhD; Allan H. Young, PhD, FRCPsych; Nicol Ferrier, PhD, FRCPsych; Anne E. Farmer, PhD, FRCPsych; Peter McGuffin, PhD, FRCPsych; Peter A. Holmans, PhD*; Michael J. Owen, PhD, FRCPsych*; Michael C. O’Donovan, PhD, FRCPsych*; Nick Craddock, PhD, FRCPsych*; for the Wellcome Trust Case Control Consortium Context: Recent studies suggest that copy number varia- Main Outcome Measures: Overall load of CNVs and tion in the human genome is extensive and may play an presence of rare CNVs. important role in susceptibility to disease, including neu- ropsychiatric disorders such as schizophrenia and autism. Results: The burden of CNVs in bipolar disorder was The possible involvement of copy number variants (CNVs) not increased compared with controls and was signifi- in bipolar disorder has received little attention to date. cantly less than in schizophrenia cases. The CNVs pre- viously implicated in the etiology of schizophrenia were Objectives: To determine whether large (100 000 base not more common in cases with bipolar disorder. pairs)
JAMA Psychiatry – American Medical Association
Published: Apr 1, 2010
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