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Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients

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Abstract

We performed a replication study in 883 Austrian multiple sclerosis (MS) patients and 972 control individuals for 25 previously risk-associated loci (39 SNPs). Two loci, rs1109670 (DDEF2/MBOAT2, p < 0.02) and rs16914086 (TBC1D2, p < 0.05), are replicated here for the first time. Furthermore, we tested all 39 SNPs for association with age at disease onset and measures of disease severity. We observed a trend for association of rs3135388 (HLA-DRB1*1501, p < 0.01), rs7090530 (IL2RA, p < 0.026) and rs1841770 (ZIC1, p < 0.017) with a younger age at MS onset and of rs12044852 (CD58, p < 0.035) with shorter time to reach EDSS6.

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Conflicts of interest

The authors declare that they have no conflicts of interest.

Author information

Authors and Affiliations

  1. Department of Neurology, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria

    Mascha C. Schmied, Barbara Bajer-Kornek, Fritz Leutmezer, Karin Zebenholzer, Christoph Hotzy, Eduard Auff, Karl Vass & Alexander Zimprich

  2. Center for Medical Statistics, Informatics and Intelligent Systems, Medical University of Vienna, Vienna, Austria

    Sonja Zehetmayer

  3. Clinical Department of Neurology, Innsbruck Medical University, Innsbruck, Austria

    Markus Reindl, Rainer Ehling & Thomas Berger

  4. Institute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany

    Peter Lichtner & Thomas Meitinger

  5. Institute of Epidemiology, Helmholtz Zentrum München, Munich, Germany

    H-Erich Wichmann & Christian Gieger

  6. Unit for Molecular Epidemiology, Helmholtz Zentrum München-German Research Center for Environmental Health, Neuherberg, Germany

    Thomas Illig

  7. Department of Clinical Chemistry, Sozialmedizinisches Zentrum Ost-Donauspital, Vienna, Austria

    Klaus Huber

  8. Department of Neurology, Medical University of Graz, Graz, Austria

    Michael Khalil, Sigrid Fuchs, Helena Schmidt & Franz Fazekas

  9. Department of Neurology, Sozialmedizinisches Zentrum Ost-Donauspital, Vienna, Austria

    Wolfgang Kristoferitsch

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  1. Mascha C. Schmied
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Correspondence to Mascha C. Schmied or Alexander Zimprich.

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Schmied, M.C., Zehetmayer, S., Reindl, M. et al. Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients. Neurogenetics 13, 181–187 (2012). https://doi.org/10.1007/s10048-012-0316-y

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