Novel CAG/CTG Repeat Expansion Mutations Do Not Contribute to the Genetic Risk for Most Cases of Bipolar Disorder or Schizophrenia

T. Tsutsumi, S. E. Holmes, M. G. McInnis, A. Sawa, C. Callahan, J. R. DePaulo, C. A. Ross, L. E. DeLisi, Russell L. Margolis

Research output: Contribution to journalArticle

Abstract

The possible presence of anticipation in bipolar affective disorder and schizophrenia has led to the hypothesis that repeat expansion mutations could contribute to the genetic etiology of these diseases. Using the repeat expansion detection (RED) assay, we have systematically examined genomic DNA from 100 unrelated probands with schizophrenia and 68 unrelated probands with bipolar affective disorder for the presence of CAG/CTG repeat expansions. Our results show that 28% of the probands with schizophrenia and 30% of probands with bipolar disorder have a CAG/CTG repeat in the expanded range, but that each expansion could be explained by one of three nonpathogenic repeat expansions known to exist in the general population. We conclude that novel CAG/CTG repeat expansions are not a common genetic risk factor for bipolar disorder or schizophrenia.

Original languageEnglish (US)
Pages (from-to)15-19
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume124 B
Issue number1
DOIs
StatePublished - Jan 1 2004

Keywords

  • Anticipation
  • Depression
  • Psychosis
  • Trinucleotide
  • Triplet

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

Fingerprint Dive into the research topics of 'Novel CAG/CTG Repeat Expansion Mutations Do Not Contribute to the Genetic Risk for Most Cases of Bipolar Disorder or Schizophrenia'. Together they form a unique fingerprint.

  • Cite this