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Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease§

Authors

  • Helen Michelakakis PhD,

    1. Department of Enzymology and Cellular Function, Institute of Child Health, Aghia Sophidara Children's Hospital, Athens, Greece
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    • Dr. Michelakakis and Dr. Xiromerisiou contributed equally to this work.

  • Georgia Xiromerisiou MD,

    1. Department of Neurogenetics, Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece
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    • Dr. Michelakakis and Dr. Xiromerisiou contributed equally to this work.

  • Efthimios Dardiotis MD,

    1. Department of Neurogenetics, Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece
    2. Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece
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  • Maria Bozi MD,

    1. Second Department of Neurology, University of Athens Medical School, Athens, Greece
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  • Demetrios Vassilatis PhD,

    1. Division of Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
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  • Persa-Maria Kountra MD,

    1. Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece
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  • Gianna Patramani MD,

    1. Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece
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  • Marina Moraitou PhD,

    1. Department of Enzymology and Cellular Function, Institute of Child Health, Aghia Sophidara Children's Hospital, Athens, Greece
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  • Dimitra Papadimitriou MD,

    1. Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece
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  • Eleftherios Stamboulis MD,

    1. Second Department of Neurology, University of Athens Medical School, Athens, Greece
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  • Leonidas Stefanis MD,

    1. Second Department of Neurology, University of Athens Medical School, Athens, Greece
    2. Division of Cell Biology, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
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  • Elias Zintzaras PhD,

    1. Department of Biomathematics, University of Thessaly School of Medicine, Larissa, Greece
    2. Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, Tufts University School of Medicine, Boston, Massachusetts, USA
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  • Georgios M. Hadjigeorgiou MD

    Corresponding author
    1. Department of Neurogenetics, Institute of Biomedical Research & Technology, CERETETH, Larissa, Greece
    2. Department of Neurology, Faculty of Medicine University of Thessaly, Larissa, Greece
    • Department of Neurology, Faculty of Medicine University of Thessaly, Biopolis, Mezourlo Hill, 41100 Larissa, Greece
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  • Funding agencies: Research Committee of University of Thessaly (Code: 2845), Institute of Biomedical Research & Technology, CERETETH (Code: 01-04-207), PENED 2003 grant from The Hellenic Secretariat of Research and Technology to LS and DV.

  • 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.

Abstract

Lysosomal protein 2 (LIMP2), the product of the scavenger receptor class B member 2 (SCARB2) gene, is a ubiquitously expressed transmembrane protein that is the mannose-6-phosphate–independent receptor for glucocerebrosidase (β-GCase); a deficiency in this protein causes Gaucher disease. Several studies have shown a link between mutations in the β-GCase gene and diseases characterized clinically by Parkinsonism and by the presence of Lewy body–related pathology. We hypothesized that genetic variants in the SCARB2 gene could be risk factors for Parkinson's disease (PD). A candidate-gene study of 347 Greek patients with sporadic PD and 329 healthy controls was conducted to investigate the association between 5 polymorphisms in the SCARB2 gene (rs6824953, rs6825004, rs4241591, rs9991821, and rs17234715) and the development of PD. The single-locus analysis for the 5 polymorphisms revealed an association only for the rs6825004 polymorphism: the generalized odds ratio (ORG) was 0.68 (95% confidence interval [CI], 0.51–0.90), and the OR for the allelic test was OR = 0.71 (95% CI, 0.56–0.90). Haplotype analysis showed an association for the GCGGT haplotype (P < .01). Our study supports a genetic contribution of the SCARB2 locus to PD; future studies in larger cohorts are necessary to verify this finding. © 2012 Movement Disorder Society

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