PMID- 10490716 OWN - NLM STAT- MEDLINE DCOM- 19991117 LR - 20220129 IS - 0148-7299 (Print) IS - 0148-7299 (Linking) VI - 88 IP - 5 DP - 1999 Oct 15 TI - No evidence for allelic association between schizophrenia and a functional variant of the human dopamine beta-hydroxylase gene (DBH). PG - 557-9 AB - 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. FAU - Williams, H J AU - Williams HJ AD - Neuropsychiatric Genetics Department, University of Wales College of Medicine, Cardiff, United Kingdom. wpchjw1@cardiff.ac.uk FAU - Bray, N AU - Bray N FAU - Murphy, K C AU - Murphy KC FAU - Cardno, A G AU - Cardno AG FAU - Jones, L A AU - Jones LA FAU - Owen, M J AU - Owen MJ LA - eng GR - G9309834/MRC_/Medical Research Council/United Kingdom GR - G9810900/MRC_/Medical Research Council/United Kingdom PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Am J Med Genet JT - American journal of medical genetics JID - 7708900 RN - EC 1.14.17.1 (Dopamine beta-Hydroxylase) SB - IM MH - Adult MH - *Alleles MH - Case-Control Studies MH - Dopamine beta-Hydroxylase/*genetics MH - Female MH - Gene Frequency MH - Genotype MH - Humans MH - Male MH - Middle Aged MH - *Polymorphism, Restriction Fragment Length MH - Schizophrenia/*genetics EDAT- 1999/09/22 00:00 MHDA- 1999/09/22 00:01 CRDT- 1999/09/22 00:00 PHST- 1999/09/22 00:00 [pubmed] PHST- 1999/09/22 00:01 [medline] PHST- 1999/09/22 00:00 [entrez] AID - 10.1002/(SICI)1096-8628(19991015)88:5<557::AID-AJMG22>3.0.CO;2-F [pii] AID - 10.1002/(sici)1096-8628(19991015)88:5<557::aid-ajmg22>3.0.co;2-f [doi] PST - ppublish SO - 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.