Williams H J, Bray N, Murphy K C, Cardno A G, Jones L A, Owen M J
Neuropsychiatric Genetics Department, University of Wales College of Medicine, Cardiff, United Kingdom.
Am J Med Genet. 1999 Oct 15;88(5):557-9. doi: 10.1002/(sici)1096-8628(19991015)88:5<557::aid-ajmg22>3.0.co;2-f.
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.
