| Literature DB >> 14991826 |
Daniel G Healy1, Patrick M Abou-Sleiman, Tetsutaro Ozawa, Andrew J Lees, Kailash Bhatia, Kourosh R Ahmadi, Ullrich Wullner, Jose Berciano, J Carsten Moller, Christoph Kamm, Katrin Burk, Paolo Barone, Eduardo Tolosa, Niall Quinn, David B Goldstein, Nicholas W Wood, Paolo Barrone.
Abstract
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 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.Entities:
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Year: 2004 PMID: 14991826 DOI: 10.1002/ana.20063
Source DB: PubMed Journal: Ann Neurol ISSN: 0364-5134 Impact factor: 10.422