Is TOR1A a risk factor in adult-onset primary torsion dystonia?

Authors

  • Justus L. Groen MD,

    1. Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
    2. Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
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  • Katja Ritz PhD,

    1. Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
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  • Michael W. Tanck PhD,

    1. Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
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  • Bart P. van de Warrenburg MD, PhD,

    1. Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands
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  • Jacobus J. van Hilten MD, PhD,

    1. Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands
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  • Majid Aramideh MD, PhD,

    1. Department of Neurology, Medical Center Alkmaar, Alkmaar, the Netherlands
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  • Frank Baas MD, PhD,

    1. Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
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  • Marina A. J. Tijssen MD, PhD

    Corresponding author
    1. Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
    • Correspondence to: Dr. de Koning-Tijssen, Movement Disorders, Department of Neurology AB 51, University Medical Centre Groningen (UMCG), PO Box 30.001,9700 RB Groningen, the Netherlands; m.a.j.de.koning-tijssen@umcg.nl

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  • Funding agencies: This study was supported by the Prinses Beatrix Fund. Justus L. Groen received an AMC Graduate School Scholarship. Marina A. J. Tijssen received research support from the Prinses Beatrix Fund. The Prinses Beatrix Fund did not have a role in the design or conduct of the study; in the collection, management, analysis, or interpretation of the data; or in the preparation, review, or approval of the article.

  • 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

Background

Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results.

Methods

The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia.

Results

In this Dutch cervical dystonia cohort, no significant association was found with TOR1A variants. In the meta-analysis (eight studies, 1332 adult-onset primary dystonia patients) no variant reached overall significance. However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01–2.02).

Conclusions

Meta-analysis does not show association with common variants in TOR1A in adult-onset primary dystonia, except for the functional variant rs1801968 in familial focal dystonia cases. © 2013 Movement Disorder Society

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