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Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

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Item Type:Article
Title:Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation
Creators Name:Andlauer, T.F.M. and Buck, D. and Antony, G. and Bayas, A. and Bechmann, L. and Berthele, A. and Chan, A. and Gasperi, C. and Gold, R. and Graetz, C. and Haas, J. and Hecker, M. and Infante-Duarte, C. and Knop, M. and Kümpfel, T. and Limmroth, V. and Linker, R.A. and Loleit, V. and Luessi, F. and Meuth, S.G. and Muehlau, M. and Nischwitz, S. and Paul, F. and Pütz, M. and Ruck, T. and Salmen, A. and Stangel, M. and Stellmann, J.P. and Stuerner, K.H. and Tackenberg, B. and Then Bergh, F. and Tumani, H. and Warnke, C. and Weber, F. and Wiendl, H. and Wildemann, B. and Zettl, U.K. and Ziemann, U. and Zipp, F. and Arloth, J. and Weber, P. and Radivojkov-Blagojevic, M. and Scheinhardt, M.O. and Dankowski, T. and Bettecken, T. and Lichtner, P. and Czamara, D. and Carrillo-Roa, T. and Binder, E.B. and Berger, K. and Bertram, L. and Franke, A. and Gieger, C. and Herms, S. and Homuth, G. and Ising, M. and Jöckel, K.H. and Kacprowski, T. and Kloiber, S. and Laudes, M. and Lieb, W. and Lill, C.M. and Lucae, S. and Meitinger, T. and Moebus, S. and Mueller-Nurasyid, M. and Nöthen, M.M. and Petersmann, A. and Rawal, R. and Schminke, U. and Strauch, K. and Völzke, H. and Waldenberger, M. and Wellmann, J. and Porcu, E. and Mulas, A. and Pitzalis, M. and Sidore, C. and Zara, I. and Cucca, F. and Zoledziewska, M. and Ziegler, A. and Hemmer, B. and Müller-Myhsok, B.
Abstract:We conducted a genome-wide association study (GWAS) on multiple sclerosis (MS) susceptibility in German cohorts with 4888 cases and 10,395 controls. In addition to associations within the major histocompatibility complex (MHC) region, 15 non-MHC loci reached genome-wide significance. Four of these loci are novel MS susceptibility loci. They map to the genes L3MBTL3, MAZ, ERG, and SHMT1. The lead variant at SHMT1 was replicated in an independent Sardinian cohort. Products of the genes L3MBTL3, MAZ, and ERG play important roles in immune cell regulation. SHMT1 encodes a serine hydroxymethyltransferase catalyzing the transfer of a carbon unit to the folate cycle. This reaction is required for regulation of methylation homeostasis, which is important for establishment and maintenance of epigenetic signatures. Our GWAS approach in a defined population with limited genetic substructure detected associations not found in larger, more heterogeneous cohorts, thus providing new clues regarding MS pathogenesis.
Keywords:Alleles, Case-Control Studies, Cohort Studies, DNA-Binding Proteins, Genetic Epigenesis, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Glycine Hydroxymethyltransferase, Multiple Sclerosis, Quantitative Trait Loci, Transcription Factors, Transcriptional Regulator ERG, Young Adult
Source:Science Advances
ISSN:2375-2548
Publisher:American Association for the Advancement of Science (U.S.A.)
Volume:2
Number:6
Page Range:e1501678
Date:17 June 2016
Official Publication:https://doi.org/10.1126/sciadv.1501678
PubMed:View item in PubMed

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