1. A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease.
- Author
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Healy DG, Abou-Sleiman PM, Ozawa T, Lees AJ, Bhatia K, Ahmadi KR, Wullner U, Berciano J, Moller JC, Kamm C, Burk K, Barone P, Tolosa E, Quinn N, Goldstein DB, and Wood NW
- Subjects
- Animals, Case-Control Studies, Chi-Square Distribution, Cohort Studies, Dopamine beta-Hydroxylase blood, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Linkage Disequilibrium, Male, Middle Aged, Multiple System Atrophy genetics, Odds Ratio, Pan troglodytes, Parkinson Disease blood, Threonine genetics, Dopamine beta-Hydroxylase genetics, Parkinson Disease genetics, Polymorphism, Genetic physiology
- 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.
- Published
- 2004
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