Abstract
Several groups have reported association between large CAG/CTG repeats in the genome and BP disorder using the Repeat Expansion Detection (RED) method. Molecular interpretation studies demonstrated that around 90% of the large CAG/CTG repeats detected by RED can by explained by repeat size at either the CTG18.1 or ERDA-1 locus. In this study we report the findings on a large European BP case-control sample analysed for these two frequently expanded repeats. The frequency of expanded alleles (>40 repeats) at the CTG18.1 locus was significantly higher in the subgroup of patients with a more severe phenotype BPI and a positive first degree family history than in a group of matched controls (9% vs 5%). No difference in ERDA-1 expansion frequency was seen between BP cases and matched controls. We conclude that the ERDA-1 locus is not related to the BP phenotype while expanded alleles at the CTG18.1 locus cannot be excluded as a vulnerability factor for BP disorder.
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Acknowledgements
Sofie Van Gestel is a PhD fellow from the Fund for Scientific Research Flanders (FWO). The work described in this paper was in part funded by the FWO-Flanders (Belgium) and an EU grant BIOMED2 CT97-2466.
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Del-Favero, J., Gestel, S., Børglum, A. et al. European combined analysis of the CTG18.1 and the ERDA1 CAG/CTG repeats in bipolar disorder. Eur J Hum Genet 10, 276–280 (2002). https://doi.org/10.1038/sj.ejhg.5200803
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DOI: https://doi.org/10.1038/sj.ejhg.5200803
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