Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3

Association and linkage studies between bipolar affective disorder and the polymorphic CAG/CTG repeat loci ERDA1, SEF2-1B, MAB21L and KCNN3

Autor Meira-Lima, Ivanor Velloso Autor UNIFESP Google Scholar
Zhao, J. Google Scholar
Sham, P. Google Scholar
Pereira, A. C. Google Scholar
Krieger, J. E. Google Scholar
Vallada, H. Google Scholar
Instituição Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Inst Psychiat
Resumo Several reports have suggested the presence of anticipation in bipolar affective disorder (BPAD). in addition, independent studies using the RED (repeat expansion detection) have shown association between BPAD and longer CAG/CTG repeats. Therefore loci with large CAG/CTG repeats are plausible candidates in the inheritance of BPAD. the present study assesses the length of the repeats in four loci: the ERDA-1 locus which is known to account for most of the long CAG repeats detected by RED, the SEF2-1b locus which is placed in a region where positive linkage results have been reported and the loci MAB21L and KCNN3 as functional candidate genes. A Brazilian case-control sample with 115 unrelated BPAD patients and 196 healthy control subjects and 14 multiply affected bipolar families was investigated. With the case-control design the distribution of alleles between the two groups did not approach statistical significance. the extended transmission disequilibrium test (ETDT) performed in our families did not show evidence for linkage disequilibrium. Parametric and non-parametric linkage analysis also did not provide support for linkage between any of the four loci and BPAD. Our data do not support the hypothesis that variation at the polymorphic CAG/CTG repeat loci ERDA-1, SEF2-1b, MAB21L or KCNN3 influence susceptibility to BPAD in our sample.
Palavra-chave trinucleotide repeats
psychosis
genetic
manic-depressive illness
Idioma Inglês
Data de publicação 2001-09-01
Publicado em Molecular Psychiatry. Basingstoke: Nature Publishing Group, v. 6, n. 5, p. 565-569, 2001.
ISSN 1359-4184 (Sherpa/Romeo, fator de impacto)
Publicador Nature Publishing Group
Extensão 565-569
Fonte http://dx.doi.org/10.1038/sj.mp.4000898
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000170346900010
Endereço permanente http://repositorio.unifesp.br/handle/11600/26610

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