A functional polymorphism regulating dopamine β‐hydroxylase influences against Parkinson's disease
- 20 February 2004
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 55 (3), 443-446
- https://doi.org/10.1002/ana.20063
Abstract
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 2004Keywords
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