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

✍ Scribed by Daniel G. Healy; 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 Barrone; Eduardo Tolosa; Niall Quinn; David B. Goldstein; Nicholas W. Wood

• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 125 KB
• Volume: 55
• Category: Article
• ISSN: 0364-5134
• DOI: 10.1002/ana.20063

✦ Synopsis

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 2004