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A functional polymorphism regulating dopamine β‐hydroxylase influences against Parkinson's disease
Author(s) -
Healy Daniel G.,
AbouSleiman Patrick M.,
Ozawa Tetsutaro,
Lees Andrew J.,
Bhatia Kailash,
Ahmadi Kourosh R.,
Wullner Ullrich,
Berciano Jose,
Moller J. Carsten,
Kamm Christoph,
Burk Katrin,
Barrone Paolo,
Tolosa Eduardo,
Quinn Niall,
Goldstein David B.,
Wood Nicholas W.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20063
Subject(s) - linkage disequilibrium , parkinson's disease , haplotype , genotype , odds ratio , genetics , dopamine , polymorphism (computer science) , dopamine beta monooxygenase , allele , disease , biology , medicine , gene , endocrinology
A functional −1021C → T polymorphism in the dopamine β‐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 haplotype, or a marker in linkage disequilibrium with the risk variant, this to our knowledge is the first report directly linking PD susceptibility with a proven functional variant. Ann Neurol 2004