Eleven trinucleotide repeat loci that map to chromosome 12 excluded from involvement in the pathogenesis of bipolar disorder

Franks, Emily, Guy, Carol, Jacobsen, N., Bowen, Timothy ORCID: https://orcid.org/0000-0001-6050-0435, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 1999. Eleven trinucleotide repeat loci that map to chromosome 12 excluded from involvement in the pathogenesis of bipolar disorder. American Journal of Medical Genetics 88 (1) , pp. 67-70. 10.1002/(SICI)1096-8628(19990205)88:1<67::AID-AJMG12>3.0.CO;2-#

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Abstract

The hypothesis that one or more genes containing expanded trinucleotide repeats contribute to the pathogenesis of bipolar disorder has received support from three independent studies demonstrating that bipolar patients tend to have larger CAG/CTG repeat expansion detection products than controls. In an attempt to identify the specific expanded CAG/CTG locus or loci which are associated with bipolar disorder, we determined repeat size at CAG/CTG loci mapping to candidate regions for bipolar disorder. Recent linkage studies suggest the existence of a bipolar susceptibility gene on chromosome 12q23-q24.1 in the region of the Darier's disease (DAR) gene. In this study we report our findings from 11 loci which map to chromosome 12, including CAG repeat polymorphisms within the genes SCA2 and ASH1. We conclude that all of these loci are excluded as candidates for CAG/CTG repeat expansion in bipolar disorder.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Bipolar Disorder / genetics*, Case Control Studies, Chromosomes, Human, Pair 12 / genetics*, DNA Binding Proteins*, Genetic Testing, Genotype, Humans, Nerve Tissue Proteins, Proteins / genetics, Transcription Factors / genetics, Trinucleotide Repeats / genetics* Substances ASH1L protein, human,DNA-Binding Proteins,Nerve Tissue Proteins,Proteins,SCA2 protein,Transcription Factors
Additional Information:	Publication Types Research Support, Non-U.S. Gov't Grant Support Wellcome Trust/United Kingdom Full Text Sources John Wiley & Sons, Inc. Other Literature Sources COS Scholar Universe Medical chromosome 12 - Genetics Home Reference Bipolar Disorder - MedlinePlus Health Information
Publisher:	Wiley
ISSN:	0148-7299
Last Modified:	12 Dec 2022 08:54
URI:	https://orca.cardiff.ac.uk/id/eprint/57953

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