Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia

J Voisey; C.D Swagell; I.P Hughes; B.R Lawford; Ross Young; C.P Morris

doi:10.1016/j.eurpsy.2009.11.011

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Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia

Journal article

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Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia

J Voisey, C.D Swagell, I.P Hughes, B.R Lawford, Ross Young and C.P Morris

European Psychiatry, Vol.25(6), pp.314-319

2010

DOI: https://doi.org/10.1016/j.eurpsy.2009.11.011

PMID: 20615671

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Abstract

Genetics

Schizophrenia and psychosis

Dystrobrevin binding protein 1

Molecular biology

Genetic association

Glutamatergic pathway

Polymorphism

Dystrobrevin binding protein 1 (DTNBP1), or dysbindin, is thought to be critical in regulating the glutamatergic system. While the dopamine pathway is known to be important in the aetiology of schizophrenia, it seems likely that glutamatergic dysfunction can lead to the development of schizophrenia. DTNBP1 is widely expressed in brain, levels are reduced in brains of schizophrenia patients and a DTNBP1 polymorphism has been associated with reduced brain expression. Despite numerous genetic studies no DTNBP1 polymorphism has been strongly implicated in schizophrenia aetiology. Using a haplotype block-based gene-tagging approach we genotyped 13 SNPs in DTNBP1 to investigate possible associations with DTNBP1 and schizophrenia. Four polymorphisms were found to be significantly associated with schizophrenia. The strongest association was found with an A/C SNP in intron 7 (rs9370822). Homozygotes for the C allele of rs9370822 were more than two and a half times as likely to have schizophrenia compared to controls. The other polymorphisms showed much weaker association and are less likely to be biologically significant. These results suggest that DTNBP1 is a good candidate for schizophrenia risk and rs9370822 is either functionally important or in disequilibrium with a functional SNP, although our observations should be viewed with caution until they are independently replicated.

Details

Title: Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia
Authors: J Voisey (Author) - Queensland University of Technology
C.D Swagell (Author) - Queensland University of Technology
I.P Hughes (Author) - Queensland University of Technology
B.R Lawford (Author) - Queensland University of Technology
Ross Young (Author) - Queensland University of Technology
C.P Morris (Author) - Queensland University of Technology
Publication details: European Psychiatry, Vol.25(6), pp.314-319
Publisher: Cambridge University Press
Date published: 2010
DOI: 10.1016/j.eurpsy.2009.11.011
ISSN: 1778-3585; 0924-9338
PMID: 20615671
Copyright note: Copyright (c) 2010. The author accepted manuscript is reproduced here in accordance with the publisher's copyright policy. The final definitive version is available at: http://dx.doi.org/10.1016/j.eurpsy.2009.11.011
Organisation Unit: University of the Sunshine Coast, Queensland; Office of the Deputy Vice-Chancellor (Research and Innovation)
Language: English
Record Identifier: 99551006002621
Output Type: Journal article

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