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

doi:10.1007/s10048-012-0316-y

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 FazekasThomas Berger, Karl Vass, Alexander Zimprich

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26 Scopus citations

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 (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.

Original language	English
Pages (from-to)	181-187
Number of pages	7
Journal	Neurogenetics
Volume	13
Issue number	2
DOIs	https://doi.org/10.1007/s10048-012-0316-y
State	Published - May 2012
Externally published	Yes

Keywords

Multiple sclerosis
Replication study
Risk genes

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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., ... Zimprich, A. (2012). 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(2), 181-187. https://doi.org/10.1007/s10048-012-0316-y

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

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 (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.",

keywords = "Multiple sclerosis, Replication study, Risk genes",

author = "Schmied, {Mascha C.} and Sonja Zehetmayer and Markus Reindl and Rainer Ehling and Barbara Bajer-Kornek and Fritz Leutmezer and Karin Zebenholzer and Christoph Hotzy and Peter Lichtner and Thomas Meitinger and Wichmann, {H. Erich} and Thomas Illig and Christian Gieger and Klaus Huber and Michael Khalil and Sigrid Fuchs and Helena Schmidt and Eduard Auff and Wolfgang Kristoferitsch and Franz Fazekas and Thomas Berger and Karl Vass and Alexander Zimprich",

year = "2012",

month = may,

doi = "10.1007/s10048-012-0316-y",

language = "English",

volume = "13",

pages = "181--187",

journal = "Neurogenetics",

issn = "1364-6745",

publisher = "Springer Science and Business Media Deutschland GmbH",

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Schmied, MC, Zehetmayer, S, Reindl, M, Ehling, R, Bajer-Kornek, B, Leutmezer, F, Zebenholzer, K, Hotzy, C, Lichtner, P, Meitinger, T, Wichmann, HE, Illig, T, Gieger, C, Huber, K, Khalil, M, Fuchs, S, Schmidt, H, Auff, E, Kristoferitsch, W, Fazekas, F, Berger, T, Vass, K & Zimprich, A 2012, 'Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients', Neurogenetics, vol. 13, no. 2, pp. 181-187. https://doi.org/10.1007/s10048-012-0316-y

TY - JOUR

T1 - Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients

AU - Schmied, Mascha C.

AU - Zehetmayer, Sonja

AU - Reindl, Markus

AU - Ehling, Rainer

AU - Bajer-Kornek, Barbara

AU - Leutmezer, Fritz

AU - Zebenholzer, Karin

AU - Hotzy, Christoph

AU - Lichtner, Peter

AU - Meitinger, Thomas

AU - Wichmann, H. Erich

AU - Illig, Thomas

AU - Gieger, Christian

AU - Huber, Klaus

AU - Khalil, Michael

AU - Fuchs, Sigrid

AU - Schmidt, Helena

AU - Auff, Eduard

AU - Kristoferitsch, Wolfgang

AU - Fazekas, Franz

AU - Berger, Thomas

AU - Vass, Karl

AU - Zimprich, Alexander

PY - 2012/5

Y1 - 2012/5

N2 - 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 (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.

AB - 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 (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.

KW - Multiple sclerosis

KW - Replication study

KW - Risk genes

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U2 - 10.1007/s10048-012-0316-y

DO - 10.1007/s10048-012-0316-y

M3 - Article

C2 - 22411505

AN - SCOPUS:84862703405

SN - 1364-6745

VL - 13

SP - 181

EP - 187

JO - Neurogenetics

JF - Neurogenetics

IS - 2

ER -

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

Abstract

Keywords

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