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Association analysis of TBX1 and schizophrenia

Williams, H.J., Khazanehdari, K., Sutherland, H., Murphy, K.C., Jones, S., McCarthy, G.S., Jones, G., Zammit, S., Cardno, A., Owen, R., Scambler, P., O'Donovan, M.C. and Owen, M.J. 2001. Association analysis of TBX1 and schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 105 (7) , p. 561.

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Abstract

Deletion of the gene TBX-1 has recently been shown to be a major genetic determinant in the etiology of cardiovascular abnormalities in patients suffering Velo-cardio-facial syndrome (VCFS). VCFS is a complex disorder and although there are a wide number of varying phenotypes some common features include distinctive dysmorphology, congenital heart disease and high rates of psychotic disorder, particularly schizophrenia. Up to 90% of patients possess a 3Mb deletion of chromosome 22q11.2 (the typically deleted region: TDR) with 7% possessing a 1.5Mb deletion and the remainder possessing unique deletions or translocations. TBX1 is located within the TDR and encodes a member of the T-box family of transcription factors. It is developmentally expressed in the pharyngeal arches and pouches, the head mesenchyme and the otic vesicle. Engineered mouse models have shown it to be crucial in the proper development of cardiovascular structures affected in VCFS. In order to determine whether deletion of TBX1 is important in the development of psychosis in VCFS we have genotyped a number of polymorphisms from within the coding sequence in 50 cases of VCFS with (n = 12) and without (n = 38) schizophrenia. We have also tested the hypothesis that polymorphisms in TBX1 confers susceptibility to schizophrenia in the non-VCFS population by genotyping 184 schizophrenic patients and 184 matched control subjects.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Last Modified: 02 Feb 2020 00:37
URI: http://orca.cf.ac.uk/id/eprint/128316

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