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Article

A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease.

Annals of neurology - 1 Mar 2004

Healy Daniel G, Abou-Sleiman Patrick M, Ozawa Tetsutaro, Lees Andrew J, Bhatia Kailash, Ahmadi Kourosh R, Wullner Ullrich, Berciano Jose, Moller J Carsten, Kamm Christoph, Burk Katrin, Barone Paolo, Tolosa Eduardo, Quinn Niall, Goldstein David B, Wood Nicholas W, Barrone Paolo

Abstract excerpt

A functional --1021C --> T polymorphism in the dopamine beta-hydroxylase gene has been demonstrated to regulate plasma DBH activity. We report that individuals with genetically determined low serum DBH activity (genotype T/T) have protection against Parkinson's disease (p = 0.01). In particular, we observed an underrepresentation of the T/T genotype odds ratio = 0.46 (CI = 0.27-0.8). Rather than identifying a...

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Source

Identifiers

PMID: 14991826
DOI: 10.1002/ana.20063

Genes

DBH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease.PMID 14991826Read ↗

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A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus.Semantic proximity Read ↗

DBH -1021C-->T does not modify risk or age at onset in Parkinson's disease.Semantic proximity Read ↗

The structure of linkage disequilibrium at the DBH locus strongly influences the magnitude of association between diallelic markers and plasma dopamine beta-hydroxylase activity.Semantic proximity Read ↗

Dopamine β Hydroxylase (DBH) is a potential modifier gene associated with Parkinson's disease in Eastern IndiaSemantic proximity Read ↗

Role of polymorphisms in dopamine synthesis and metabolism genes and association of DBH haplotypes with Parkinson's disease among North Indians.Semantic proximity Read ↗

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