No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH).

Willliams, Hywel, Bray, Nicholas John ORCID: https://orcid.org/0000-0002-4357-574X, Murphy, K. C., Cardno, A. G., Jones, L. A. and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 1999. No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH). American Journal Of Medical Genetics Part A 88 (5) , pp. 557-559. 10.1002/(SICI)1096-8628(19991015)88:5<557::AID-AJMG22>3.0.CO;2-F

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Abstract

Dopamine beta-hydroxylase (DBH), the enzyme that converts dopamine to norepinepherine, has been proposed as being involved in the aetiology of schizophrenia. Previous work identified a functional polymorphism at nucleotide 910 of the DBH gene that results in a codon change in the mature protein Ala304Ser, with the mutant allele being associated with a lower enzymatic activity. In this study we performed an RFLP analysis in an association study consisting of 178 unrelated schizophrenic patients and 178 unrelated control subjects, matched for age, sex, and ethnicity. The frequency of the Ser304 DBH allele was 0.10 in the patient group and 0.08 in the control group, with no significant allelic or genotypic association observed. Therefore, we were unable to obtain evidence that this polymorphism contributes directly to susceptibility to schizophrenia.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Neuroscience and Mental Health Research Institute (NMHRI) Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
ISSN:	0148-7299
Last Modified:	31 Oct 2022 09:31
URI:	https://orca.cardiff.ac.uk/id/eprint/81348

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