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A functional polymorphism regulating dopamine β‐hydroxylase influences against Parkinson's disease

2004; Wiley; Volume: 55; Issue: 3 Linguagem: Inglês

10.1002/ana.20063

1531-8249

Daniel G. Healy, Patrick M. Abou‐Sleiman, Tetsutaro Ozawa, Andrew J. Lees, Kailash P. Bhatia, Kourosh R. Ahmadi, Ullrich Wüllner, José Berciano, Jens Carsten Möller, Christoph Kamm, Katrin Bürk, Paolo Barrone, Eduardo Tolosa, Niall Quinn, David B. Goldstein, Nicholas Wood,

Neurological disorders and treatments

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.