Previously we provided evidence that the anticipation observed in bipolar (BP) disorder may be explained by expanded CAG/CTG triplet repeats. Data were generated with the repeat expansion detection (RED) method in a BP case-control sample showing a significant association of BP disorder with expanded CAG/CTG repeats (RED products of 120 bp). In this study we demonstrated that 86% of the RED expansions could be accounted for by the ERDA1 and CTG18.1 CAG/CTG repeats located respectively on chromosomes 17 and 18. Further, significantly different allele distributions were observed for ERDA1, with a larger proportion of BP patients (34.7%) carrying one or two expanded ERDA1 alleles (CAG/CTG repeats >40) than controls (19.2%) (P = 0.032). Also, a negative correlation was observed for ERDA1 between CAG/CTG length and age at onset in affected offspring of eight BP families. Although interesting, these data should be interpreted with caution since the ERDA1 association did not remain significant after correcting for multiple testing. Also, no linkage was observed between BP disorder and expanded ERDA1 alleles in the families.
Copyright 1999 Academic Press.