A functional polymorphism regulating dopamine beta-hydroxylase influences against Parkinson's disease.
case_control · Level III
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- Record sourced from PubMed, PMID 14991826.
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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.
Medical subject headings
- Dopamine beta-Hydroxylase
- Parkinson Disease
- Polymorphism, Genetic