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Schmied, M.C.* ; Zehetmayer, S.* ; Reindl, M.* ; Ehling, R.* ; Bajer-Kornek, B.* ; Leutmezer, F.* ; Zebenholzer, K.* ; Hotzy, C.* ; Lichtner, P. ; Meitinger, T. ; Wichmann, H.-E. ; Illig, T. ; Gieger, C. ; Huber, K.* ; Khalil, M.* ; Fuchs, S.* ; Schmidt, H.* ; Auff, E.* ; Kristoferitsch, W.* ; Fazekas, F.* ; Berger, T.* ; Vass, K.* ; *

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)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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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Publication type Article: Journal article
Document type Scientific Article
Keywords Multiple Sclerosis ; Risk Genes ; Replication Study; GENOME-WIDE ASSOCIATION; RISK LOCUS; GENE; POLYMORPHISMS; CLEC16A; POPULATIONS; DIAGNOSIS; IL2RA; CD58; AGE
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Journal Neurogenetics
Quellenangaben Volume: 13, Issue: 2, Pages: 181-187 Article Number: , Supplement: ,
Publisher Springer
Reviewing status Peer reviewed
Institute(s) Research Unit Molecular Epidemiology (AME)
Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)