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Neurogenetics (2012) 13:181187 DOI 10.1007/s10048-012-0316-y
SHORT COMMUNICATION
Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients
Mascha C. Schmied & Sonja Zehetmayer &
Markus Reindl & Rainer Ehling &
Barbara Bajer-Kornek & Fritz Leutmezer &
Karin Zebenholzer & Christoph Hotzy & Peter Lichtner &
Thomas Meitinger & H-Erich Wichmann & Thomas Illig &
Christian Gieger & Klaus Huber & Michael Khalil &
Sigrid Fuchs & Helena Schmidt & Eduard Auff &
Wolfgang Kristoferitsch & Franz Fazekas &
Thomas Berger & Karl Vass & Alexander Zimprich
Received: 8 September 2011 /Accepted: 6 February 2012 /Published online: 14 March 2012 # Springer-Verlag 2012
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 ob-served a trend for association of rs3135388 (HLADRB1*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.
Electronic supplementary material The online version of this article (doi:http://dx.doi.org/10.1007/s10048-012-0316-y
Web End =10.1007/s10048-012-0316-y ) contains supplementary material, which is available to authorized users.
M. C. Schmied (*) : B. Bajer-Kornek : F. Leutmezer :
K. Zebenholzer : C. Hotzy : E. Auff : K. Vass : A. Zimprich (*) Department of Neurology, Medical University of Vienna, Waehringer Guertel 18-20,1090 Vienna, Austriae-mail: [email protected]: [email protected]
S. ZehetmayerCenter for Medical Statistics, Informatics and Intelligent Systems, Medical University of Vienna,Vienna, Austria
M. Reindl : R. Ehling : T. BergerClinical Department of Neurology, Innsbruck Medical University, Innsbruck, Austria
P. Lichtner : T. MeitingerInstitute of Human Genetics, Helmholtz Zentrum Mnchen-German Research Center for Environmental Health, Neuherberg, Germany
H.-E. Wichmann : C. GiegerInstitute of Epidemiology, Helmholtz Zentrum Mnchen, Munich, Germany
T. IlligUnit for Molecular Epidemiology, Helmholtz Zentrum Mnchen-German Research Center for Environmental Health, Neuherberg, Germany
K. HuberDepartment of Clinical Chemistry, Sozialmedizinisches Zentrum Ost-Donauspital, Vienna, Austria
M. Khalil : S. Fuchs : H. Schmidt : F. Fazekas Department of Neurology, Medical University of Graz, Graz, Austria