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

来源：

ANNALS OF NEUROLOGY | 2004年 / 55卷 / 03期

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

页码：443 / 446

页数：4

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