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

被引:45
作者
Healy, DG
Abou-Sleiman, PM
Ozawa, T
Lees, AJ
Bhatia, K
Ahmadi, KR
Wullner, U
Berciano, J
Moller, JC
Kamm, C
Burk, K
Barrone, P
Tolosa, E
Quinn, N
Goldstein, DB
Wood, NW
机构
[1] Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
[2] Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London WC1N 3BG, England
[3] Univ London, Reta Lila Weston Inst Neurol Studies, London WC1E 7HU, England
[4] Univ Barcelona, Hosp Clin, Serv Neurol, Inst Clin Malaltias Sistema Nervios, Barcelona, Spain
[5] Univ Bonn, Dept Neurol, D-5300 Bonn, Germany
[6] Univ Hosp Marques de Valdecilla, Serv Neurol, Santander, Spain
[7] Univ Marburg, Dept Neurol, Marburg, Germany
[8] Univ Tubingen, Dept Neurodegenerat Dis, D-72074 Tubingen, Germany
[9] Univ Tubingen, Hertie Inst Clin Brain Res, D-72074 Tubingen, Germany
[10] Univ Tubingen, Dept Neurol, D-72074 Tubingen, Germany
[11] Univ Naples Federico 2, Dept Neurol Sci, Naples, Italy
[12] UCL, Dept Biol, London, England
关键词
D O I
10.1002/ana.20063
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:443 / 446
页数:4
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