The experimental work reported in this article was performed at Johns Hopkins University.
Novel CAG/CTG repeat expansion mutations do not contribute to the genetic risk for most cases of bipolar disorder or schizophrenia†
Article first published online: 29 MAY 2003
Copyright © 2004 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 124B, Issue 1, pages 15–19, 1 January 2004
How to Cite
Tsutsumi, T., Holmes, S.E., McInnis, M.G., Sawa, A., Callahan, C., DePaulo, J.R., Ross, C.A., DeLisi, L.E. and Margolis, R.L. (2004), Novel CAG/CTG repeat expansion mutations do not contribute to the genetic risk for most cases of bipolar disorder or schizophrenia. Am. J. Med. Genet., 124B: 15–19. doi: 10.1002/ajmg.b.20058
- Issue published online: 12 DEC 2003
- Article first published online: 29 MAY 2003
- Manuscript Accepted: 12 MAR 2003
- Manuscript Received: 26 NOV 2002
- The Stanley Medical Research Institute (Bipolar Center grant)
- National Association for Research on Schizophrenia and Depression
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.© 2003 Wiley-Liss, Inc.