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Andlauer, T.F.* ; Buck, D.* ; Antony, G.* ; Bayas, A.* ; Bechmann, L.* ; Berthele, A.* ; Chan, A.* ; Gasperi, C.* ; Gold, R.* ; Graetz, C.* ; Haas, J.* ; Hecker, M.* ; Infante-Duarte, C.* ; Knop, M.* ; Kümpfel, T.* ; Limmroth, V.* ; Linker, R.A.* ; Loleit, V.* ; Luessi, F.* ; Meuth, S.G.* ; Mühlau, M.* ; Nischwitz, S.* ; Paul, F.* ; Pütz, M.* ; Ruck, T.* ; Salmen, A.* ; Stangel, M.* ; Stellmann, J.P.* ; Stürner, K.H.* ; Tackenberg, B.* ; Then Bergh, F.* ; Tumani, H.* ; Warnke, C.* ; Weber, F.* ; Wiendl, H.* ; Wildemann, B.* ; Zettl, U.K.* ; Ziemann, U.* ; Zipp, F.* ; Knauer-Arloth, J. ; Weber, P.* ; Radivojkov-Blagojevic, M. ; Scheinhardt, M.O.* ; Dankowski, T.* ; Bettecken, T.* ; Lichtner, P. ; Czamara, D.* ; Carrillo-Roa, T.* ; Binder, E.B.* ; Berger, K.* ; Bertram, L.* ; Franke, A.* ; Gieger, C. ; Herms, S.* ; Homuth, G.* ; Ising, M.* ; Jöckel, K.-H.* ; Kacprowski, T.* ; Kloiber, S.* ; Laudes, M.* ; Lieb, W.* ; Lill, C.M.* ; Lucae, S.* ; Meitinger, T. ; Moebus, S.* ; Müller-Nurasyid, M. ; Nöthen, M.M.* ; Petersmann, A.* ; Rawal, R. ; Schminke, U.* ; Strauch, K. ; Völzke, H.* ; Waldenberger, M. ; Wellmann, J.* ; Porcu, E.* ; Mulas, A.* ; Pitzalis, M.* ; Sidore, C.* ; Zara, I.* ; Cucca, F.* ; Zoledziewska, M.* ; Ziegler, A.* ; Hemmer, B.* ; Müller-Myhsok, B.*

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.

Sci. Adv. 2:e1501678 (2016)
Publ. Version/Full Text Supplement DOI PMC
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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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Dleu1 ; Dna Methylation ; Erg ; L3mbtl3 ; Maz ; Multiple Sclerosis ; Shmt1 ; Genome-wide Association Study
Language english
Publication Year 2016
HGF-reported in Year 0
ISSN (print) / ISBN 2375-2548
e-ISSN 2375-2548
Journal Science Advances
Quellenangaben Volume: 2, Issue: 6, Pages: , Article Number: e1501678 Supplement: ,
Publisher American Association for the Advancement of Science (AAAS)
Publishing Place Washington, DC [u.a.]
Reviewing status Peer reviewed
Institute(s) Institute of Computational Biology (ICB)
Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
Institute of Genetic Epidemiology (IGE)
POF-Topic(s) 30205 - Bioengineering and Digital Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30202 - Environmental Health
Research field(s) Enabling and Novel Technologies
Genetics and Epidemiology
PSP Element(s) G-503800-001
G-500700-001
G-504091-004
G-504100-001
G-504091-001
PubMed ID 27386562
DOI 10.1126/sciadv.1501678
Erfassungsdatum 2016-07-09
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