title: Expanded RED products and loci containing CAG/CTG repeats on chromosome 17 (ERDA1) and chromosome 18 (CTG18.1) in trans-generational pairs with bipolar affective disorder.
abstract: The purpose of the present study was to further test if expanded CAG repeats detected by the repeat expansion detection (RED) method in bipolar affective disorder (BPAD) are correlated with ERDA1 (17q21.3) and/or CTG18.1 (18q21.1) loci expansions, and changes of phenotype severity in successive generations (anticipation). The sample was designed to analyze ERDA1 and CTG18.1 expansions in trans-generational pairs of affected individuals (parent-offspring pairs: G1 and G2). Clinical and genetic information was available on 95 two-generations pairs. We found in our sample no one patient carrying an expanded allele at the CTG18.1 locus. This observation is true for all individuals in G1 and G2. Using the conditional logistic regression, no statistical difference was observed between the two generations for ERDA1 alleles (chi(2) = 0.2, P = 0.65). These data do not support the correlation between expanded RED products (RED fragments >120) and expanded alleles at ERDA1 in trans-generational pairs with BPAD. We were not able to detect any correlation for CTG18.1. Earlier age at onset in offspring generation was also not associated with expanded RED products explained by expanded ERDA1 alleles.
authors.affiliation: Department of Psychiatry, University Clinics of Brussels, Erasme Hospital, Free University of Brussels, 808 Route de Lennik, B-1070 Brussels, Belgium. jmendlew@ulb.ac.be
authors.forename: Julien
authors.initials: J
authors.lastname: Mendlewicz
authors.forename: Daniel
authors.initials: D
authors.lastname: Souery
authors.forename: Jurgen
authors.initials: J
authors.lastname: Del-Favero
authors.forename: Isabelle
authors.initials: I
authors.lastname: Massat
authors.forename: Kerstin
authors.initials: K
authors.lastname: Lindblad
authors.forename: Christer
authors.initials: C
authors.lastname: Engström
authors.forename: Dirk
authors.initials: D
authors.lastname: Van den Bossche
authors.forename: Rolf
authors.initials: R
authors.lastname: Adolfsson
authors.forename: Martin
authors.initials: M
authors.lastname: Schalling
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
mesh_terms: D000328:Adult; D017668:Age of Onset; D000483:Alleles; D020132:Anticipation, Genetic; D001714:Bipolar Disorder / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D002887:Chromosomes, Human, Pair 18; D005192:Family Health; D006801:Humans; D040582:Inheritance Patterns; D016015:Logistic Models; D010641:Phenotype; D019680:Trinucleotide Repeat Expansion