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Dankowski, T.* ; Buck, D.* ; Andlauer, T.F.* ; Antony, G.* ; Bayas, A.* ; Bechmann, L.* ; Berthele, A.* ; Bettecken, T.* ; Chan, A.* ; Franke, A.* ; Gold, R.* ; Graetz, C.* ; Haas, J.* ; Hecker, M.* ; Herms, S.* ; Infante-Duarte, C.* ; Jöckel, K.-H.* ; Kieseier, B.C.* ; Knier, B.* ; Knop, M.* ; Kümpfel, T.* ; Lichtner, P. ; Lieb, W.* ; Lill, C.M.* ; Limmroth, V.* ; Linker, R.A.* ; Loleit, V.* ; Meuth, S.G.* ; Moebus, S.* ; Müller-Myhsok, B.* ; Nischwitz, S.* ; Nöthen, M.M.* ; Paul, F.* ; Pütz, M.* ; Ruck, T.* ; Salmen, A.* ; Stangel, M.* ; Stellmann, J.P.* ; Strauch, K. ; Stürner, K.H.* ; Tackenberg, B.* ; Then Bergh, F.* ; Tumani, H.* ; Waldenberger, M. ; Weber, F.* ; Wiendl, H.* ; Wildemann, B.* ; Zettl, U.K.* ; Ziemann, U.* ; Zipp, F.* ; Hemmer, B.* ; Ziegler, A.*

Successful replication of GWAS hits for multiple sclerosis in 10,000 Germans using the exome array.

Genet. Epidemiol. 39, 601-608 (2015)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Genome-wide association studies (GWAS) successfully identified various chromosomal regions to be associated with multiple sclerosis (MS). The primary aim of this study was to replicate reported associations from GWAS using an exome array in a large German study. German MS cases (n = 4,476) and German controls (n = 5,714) were genotyped using the Illumina HumanExome v1-Chip. Genotype calling was performed with the Illumina Genome Studio(TM) Genotyping Module, followed by zCall. Single-nucleotide polymorphisms (SNPs) in seven regions outside the human leukocyte antigen (HLA) region showed genome-wide significant associations with MS (P values < 5 × 10(-8) ). These associations have been reported previously. In addition, SNPs in three previously reported regions outside the HLA region yielded P values < 10(-5) . The effect of nine SNPs in the HLA region remained (P < 10(-5) ) after adjustment for other significant SNPs in the HLA region. All of these findings have been reported before or are driven by known risk loci. In summary, findings from previous GWAS for MS could be successfully replicated. We conclude that the regions identified in previous GWAS are also associated in the German population. This reassures the need for detailed investigations of the functional mechanisms underlying the replicated associations.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Ankrd55 Gene ; Hla-dpb2 Gene ; Illumina Exome Array ; Mmel1 Gene ; Genome-wide Association Study ; Multiple Sclerosis
Language english
Publication Year 2015
HGF-reported in Year 2015
ISSN (print) / ISBN 0741-0395
e-ISSN 1098-2272
Journal Genetic Epidemiology
Quellenangaben Volume: 39, Issue: 8, Pages: 601-608 Article Number: , Supplement: ,
Publisher Wiley
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
G-504100-001
G-504091-001
PubMed ID 26497834
DOI 10.1002/gepi.21933
WOS ID WOS:000366605200001
Scopus ID 84954366909
Scopus ID 84949647536
Erfassungsdatum 2015-12-03
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