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Title: Copy number variation in bipolar disorder
Author: Grozeva, Detelina
ISNI:       0000 0004 2750 0793
Awarding Body: Cardiff University
Current Institution: Cardiff University
Date of Award: 2010
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A plethora of studies have suggested that copy number variation in the human genome is extensive and may play an important role in susceptibility to disease, including neuropsychiatric disorders such as schizophrenia and autism. The possible involvement of copy number variants (CNVs) in bipolar disorder has received little attention to date. This PhD thesis describes work that sought to determine whether large (≥ 100 kb) and rare (with frequency ≤ 1%) CNVs are associated with susceptibility to bipolar disorder and to make comparisons with previous findings in schizophrenia. In order to do that, a genome-wide survey of large and rare CNVs in a case-control sample using a high-density microarray was performed. 1697 cases of bipolar disorder and 2806 non-psychiatric controls were genotyped using Affymetrix 500K array set. Subsequently, the copy number data were inferred and analysed. The burden of CNVs in bipolar disorder was not increased compared with controls. Furthermore, CNVs > 1 Mb were found with statistically significant lower rate in bipolar disorder as compared to schizophrenia. In addition, CNV loci previously implicated in the aetiology of schizophrenia were not more common in cases with bipolar disorder. The main observation was that large and rare CNVs do not have a major effect in the susceptibility to bipolar disorder. In addition, it was noted that bipolar disorder and schizophrenia differ with respect to CNV burden in general and specific CNVs in particular. As the same CNVs implicated in schizophrenia, have been observed in autism and mental retardation, and not in bipolar disorder, it is reasonable to postulate that CNVs could be a specific genetic factor for a predisposition to disorders with stronger neurodevelopmental component than bipolar disorder. This study has provided one of the first glimpses of the possible involvement of copy number variation in the susceptibility to bipolar disorder.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available