Strong evidence for association between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria

Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Preece, Anna Charlotte, Nikolov, Ivan, Milev, Radoi, Koleva, Svetlinka, Dimitrova, Albena, Toncheva, Draga, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2004. Strong evidence for association between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria. Biological psychiatry 55 (10) , pp. 971-975. 10.1016/j.biopsych.2004.01.025

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Abstract

Background The gene encoding the dystrobrevin binding protein (DTNBP1) has been implicated in the pathogenesis of schizophrenia by several association studies. We tried to replicate these findings in a sample of 488 parent–proband trios recruited in Bulgaria. Probands had a diagnosis of schizophrenia (n = 441) or schizoaffective disorder (n = 47). Methods We genotyped eight single nucleotide polymorphisms within the gene, four of which had been reported in previous studies, and four identified as informative by our group through direct screening of the gene and genotyping in a sample of cases and control subjects. Results A significant excess of transmissions was observed for two of the markers, p1635 and p1757, (p = .0009 and .0013, respectively). Analysis of two-, three-, and four-marker haplotypes produced numerous positive results, with six (4% of the total combinations) at p < .001. Conclusions These results provide strong support for DTNBP1 as a susceptibility gene for schizophrenia; however, different haplotypes seem to be associated in different studies.

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)
Uncontrolled Keywords:	Dysbindin; DTNBP1, schizophrenia; transmission disequilibrium test; linkage disequilibrium; association
Publisher:	Elsevier
ISSN:	0006-3223
Date of Acceptance:	23 January 2004
Last Modified:	01 Mar 2024 07:37
URI:	https://orca.cardiff.ac.uk/id/eprint/581

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