Literature DB >> 14991826

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

Daniel G Healy1, 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 Barone, Eduardo Tolosa, Niall Quinn, David B Goldstein, Nicholas W Wood, Paolo Barrone.   

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.

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Year:  2004        PMID: 14991826     DOI: 10.1002/ana.20063

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  16 in total

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3.  The catecholamine biosynthetic enzyme dopamine β-hydroxylase (DBH): first genome-wide search positions trait-determining variants acting additively in the proximal promoter.

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7.  Regulation of rat dopamine beta-hydroxylase gene transcription by early growth response gene 1 (Egr1).

Authors:  Shu-Yuan Cheng; Lidia I Serova; Dina Glazkova; Esther L Sabban
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8.  Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease.

Authors:  Owen A Ross; Michael G Heckman; Alexandra I Soto; Nancy N Diehl; Kristoffer Haugarvoll; Carles Vilariño-Güell; Jan O Aasly; Sigrid Sando; J Mark Gibson; Timothy Lynch; Anna Krygowska-Wajs; Grzegorz Opala; Maria Barcikowska; Krzysztof Czyzewski; Ryan J Uitti; Zbigniew K Wszolek; Matthew J Farrer
Journal:  Parkinsonism Relat Disord       Date:  2008-08-22       Impact factor: 4.891

9.  Association of the rs1611115 polymorphism in DBH gene with Parkinson's disease: a meta-analysis.

Authors:  Shan Kang; Mingxia Bi; Xixun Du; Qian Jiao; Hong Jiang
Journal:  Neurol Sci       Date:  2018-09-05       Impact factor: 3.307

10.  DBH -1021C-->T does not modify risk or age at onset in Parkinson's disease.

Authors:  Lani S Chun; Ali Samii; Carolyn M Hutter; Alida Griffith; John W Roberts; Berta C Leis; Anthony D Mosley; P Luke Wander; Karen L Edwards; Haydeh Payami; Cyrus P Zabetian
Journal:  Ann Neurol       Date:  2007-07       Impact factor: 10.422

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