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The role of SCARB2 as susceptibility factor in Parkinson's disease

Authors

  • Franziska Hopfner MD,

    Corresponding author
    1. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
    2. Department of Neurology, Christian-Albrechts-University Kiel, Kiel, Germany
    • Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
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  • Eva C. Schulte MD,

    1. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
    2. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
    3. Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
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  • Brit Mollenhauer MD,

    1. Paracelsus-Elena-Klinik, Center of Parkinsonism and Movement Disorders, Kassel, Germany
    2. Georg-August-University, Department of Clinical Neurophysiology, Göttingen, Germany
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  • Benjamin Bereznai MD,

    1. Clinical and Research Center of Molecular Neurology, Semmelweis University, Budapest, Hungary
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  • Franziska Knauf MSc,

    1. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
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  • Peter Lichtner PhD,

    1. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
    2. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
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  • Alexander Zimprich MD,

    1. Department of Neurology, Medizinische Universität Wien, Vienna, Austria
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  • Dietrich Haubenberger MD,

    1. Department of Neurology, Medizinische Universität Wien, Vienna, Austria
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  • Walter Pirker MD,

    1. Department of Neurology, Medizinische Universität Wien, Vienna, Austria
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  • Thomas Brücke MD,

    1. Neurological Department, Wilhelminenspital, Vienna, Austria
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  • Annette Peters PhD,

    1. Institutof Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
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  • Christian Gieger PhD,

    1. Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
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  • Gregor Kuhlenbäumer MD, PhD,

    1. Institute of Experimental Medicine, Christian-Albrechts-University Kiel, Kiel, Germany
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  • Claudia Trenkwalder MD,

    1. Paracelsus-Elena-Klinik, Center of Parkinsonism and Movement Disorders, Kassel, Germany
    2. Georg-August-University, Department of Clinical Neurophysiology, Göttingen, Germany
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  • Juliane Winkelmann MD

    1. Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
    2. Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
    3. Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany
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  • Funding agencies: The study was funded and sponsored by institutional funding from Helmholtz Zentrum München, Munich, Germany. Recruitment of case and control cohorts was supported by institutional (Helmholtz Zentrum München, Munich, Germany) and government funding from the German Bundesministerium für Bildung und Forschung (03.2007-02.2011 FKZ 01ET0713) and the Hungarian National Innovation Office (TAMOP-4-2-1/B-03/1/KMR-2010-001). Gregor Kuhlenbäumer is a member of the DFG-funded Cluster of Excellence “Inflammation at Interfaces.”

  • Relevant conflicts of interest/financial disclosures: Nothing to report.Full financial disclosures and author roles may be found in the online version of this article.

Correspondence to: Franziska Hopfner, Klinik für Neurologie, Arnold-Heller-Straße 3, Haus 41, Neurozentrum, 24105 Kiel, Germany; f.hopfner@neurologie.uni-kiel.de

ABSTRACT

Background

Genetic variation in the glucocerebrosidase (GBA) gene is strongly associated with Parkinson's disease (PD). Transport of glucocerebrosidase to the lysosome involves the protein encoded by the SCARB2 gene. An association between the common SNP rs6812193, upstream of SCARB2, and PD has been reported previously. The role of exonic variants in the SCARB2 gene in PD has not been examined.

Methods

We studied the role of exonic variants in SCARB2 and tried to replicate the association between the SNP rs6812193 and PD in a German and Austrian sample. Screening of all SCARB2 exons by high-resolution melting curve analysis was performed in 376 German PD patients. The SNP rs6812193 was analyzed in 984 PD patients and 1014 general population controls.

Results

We identified no novel exonic variants in SCARB2 but confirmed the association between SNP rs6812193 and PD (OR, 0.86; P=.02). © 2013 Movement Disorder Society

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