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Mutation screening of the Homer gene family and association analysis in schizophrenia

Norton, N., Williams, H.J., Williams, Nigel Melville, Spurlock, G., Zammit, Stanley, Jones, G., Jones, S., Owen, R., O'Donovan, Michael Conlon and Owen, Michael John 2003. Mutation screening of the Homer gene family and association analysis in schizophrenia. American Journal of Medical Genetics 120B (1) , pp. 18-21. 10.1002/ajmg.b.20032

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Abstract

Homer proteins are a group of proteins that regulate group 1 metabotropic glutamate receptor function. As altered glutamate function has been implicated in many neuro psychiatric disorders, particularly schizophrenia, we have screened all three known Homer genes for sequence variation for use under the candidate gene association paradigm. We found seven SNPs, including three in exons. Of these, none was non-synonymous. Allele frequencies of all the detected SNPs were estimated in DNA pools of 368 schizophrenics and 368 controls. Only one (Homer 1 IVS4 + 18A > G) was associated with schizophrenia in this sample, a finding confirmed by individual genotyping (P = 0.01). However, in our extended sample of 680 cases and 671 controls, the evidence for association diminished (P = 0.05). Our results suggest it is unlikely that sequence variants in the Homer genes contribute to the aetiology of schizophrenia, but the variants we identified are plausible candidates for other neuropsychiatric phenotypes.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Medicine
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
Publisher: Wiley
ISSN: 0148-7299
Last Modified: 22 Feb 2018 19:51
URI: http://orca.cf.ac.uk/id/eprint/82117

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