Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample

Andrew McQuillin, Nicholas Bass, Adebayo Anjorin, Jacob Lawrence, Radhika Kandaswamy, Greg Lydall, Jennifer Moran, Pamela Sklar, Shaun Purcell, Hugh Gurling

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

Abstract

Genetic deletions and duplications known as copy number variants have been strongly implicated in genetic susceptibility to schizophrenia, autism, attention deficit hyperactivity disorder and epilepsy. The overall rate of copy number variants in the University College London (UCL) bipolar disorder sample was found to be slightly lower than the rate in controls. This finding confirms the results from other studies that have also shown no increased rate of copy number variants in bipolar disorder. However, some rare duplications and deletions were observed only in bipolar disorder cases and not in controls, these included some that had previously been detected only in rare cases of bipolar disorder. We conclude that copy-number variant analysis shows no obvious sharing of the same genetic susceptibility between schizophrenia and bipolar disorder. Copy number variants do not seem to have an important role in susceptibility to bipolar disorder, they may, however, still represent a rare cause of the disease, although the evidence for this is far from clear.

Original languageEnglish
Pages (from-to)588-592
Number of pages5
JournalEuropean Journal of Human Genetics
Volume19
Issue number5
DOIs
StatePublished - May 2011
Externally publishedYes

Keywords

  • Bipolar disorder
  • Deletions
  • Duplications
  • Genetic susceptibility
  • Schizophrenia
  • Structural variation

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