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

Nadine Norton, H. J. Williams, N. M. Williams, G. Spurlock, S. Zammit, G. Jones, S. Jones, R. Owen, M. C. O'Donovan, Mike J. Owen

Research output: Contribution to journalArticle

45 Citations (Scopus)

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 neuropsychiatric 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.

Original languageEnglish (US)
Pages (from-to)18-21
Number of pages4
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume120 B
Issue number1
StatePublished - Jul 1 2003
Externally publishedYes

Fingerprint

Schizophrenia
Mutation
Single Nucleotide Polymorphism
Genes
Gene Frequency
Glutamic Acid
Exons
Phenotype
DNA
Proteins
Homer Scaffolding Proteins
metabotropic glutamate receptor type 1

Keywords

  • Association
  • Glutamate
  • Homer
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Norton, N., Williams, H. J., Williams, N. M., Spurlock, G., Zammit, S., Jones, G., ... Owen, M. J. (2003). Mutation screening of the Homer gene family and association analysis in schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics, 120 B(1), 18-21.

Mutation screening of the Homer gene family and association analysis in schizophrenia. / Norton, Nadine; Williams, H. J.; Williams, N. M.; Spurlock, G.; Zammit, S.; Jones, G.; Jones, S.; Owen, R.; O'Donovan, M. C.; Owen, Mike J.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 120 B, No. 1, 01.07.2003, p. 18-21.

Research output: Contribution to journalArticle

Norton, N, Williams, HJ, Williams, NM, Spurlock, G, Zammit, S, Jones, G, Jones, S, Owen, R, O'Donovan, MC & Owen, MJ 2003, 'Mutation screening of the Homer gene family and association analysis in schizophrenia', American Journal of Medical Genetics - Neuropsychiatric Genetics, vol. 120 B, no. 1, pp. 18-21.
Norton, Nadine ; Williams, H. J. ; Williams, N. M. ; Spurlock, G. ; Zammit, S. ; Jones, G. ; Jones, S. ; Owen, R. ; O'Donovan, M. C. ; Owen, Mike J. / Mutation screening of the Homer gene family and association analysis in schizophrenia. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2003 ; Vol. 120 B, No. 1. pp. 18-21.
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