ArticleScience advances2016
Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation.
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In one paragraph
Article in Science advances, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 6 of them syntheses that pooled it.
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95citing papers in PubMed, 6 pooled it
8.2field-weighted citation impact, top 2% of its field
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Who cites it
95 citing papers in PubMed, 6 syntheses or guidelines pooled it, 179 citations in OpenAlex.
- Exploring the Potential Link Between Autoimmune Diseases and Pan-Cancer: A Multidatabase Mendelian Randomization Analysis.Journal of immunology research · 2025Pooled it
- Lowering of Circulating Sclerostin May Increase Risk of Atherosclerosis and Its Risk Factors: Evidence From a Genome-Wide Association Meta-Analysis Followed by Mendelian Randomization.Arthritis & rheumatology (Hoboken, N.J.) · 2023Pooled it
- Identifying shared genetic loci and common risk genes of rheumatoid arthritis associated with three autoimmune diseases based on large-scale cross-trait genome-wide association studies.Frontiers in immunology · 2023Pooled it
- A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.Journal of neurology · 2022Pooled it
- GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating α-Klotho levels.Human molecular genetics · 2022Pooled it
- Genetic factors influencing a neurobiological substrate for psychiatric disorders.Translational psychiatry · 2021Pooled it
- Article
- Multiancestry genome-wide association and multiomics analyses elucidate spatiocellular features of multiple sclerosis genetics.Nature genetics · 2026Article
- Shared genetic architecture between DTI-ALPS traits and neurodegenerative diseases.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Role of Folate Metabolism in Neurodegenerative Diseases: Insight from Experimental and Clinical Studies.Current nutrition reports · 2026Review
- Serine Hydroxymethyltransferase (SHMT) in biology and disease: molecular mechanisms and therapeutic targeting.Journal of translational medicine · 2026Review
- Genetic background shapes SEZ6L2 autoimmunity and reveals coordinated immune responses linked to neurological dysfunction.bioRxiv : the preprint server for biology · 2026Article
- G‑Quadruplex and i‑Motif Structures in theACS omega · 2026Article
- Deep learning for regulatory genomics: a survey of models, challenges, and applications.Bioinformatics advances · 2026Review
- Genetic variants associated with Sjögren's disease subtypes stratified by clinical feature.Frontiers in immunology · 2026Article
- Article
- Sez6L2 autoimmunity induces cerebellar ataxia in mice.Journal of neuroinflammation · 2025Article
- Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis.Neurology(R) neuroimmunology & neuroinflammation · 2025Article
- Article
- Multiple sclerosis as a genetic risk factor for Alzheimer's disease: Insights from Mendelian randomisation.Neurodegenerative disease management · 2025Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
84 authors at 20 institutions in 8 countries.
Till F M AndlauerMax Planck Institute of Psychiatry, 80804 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.ORCID 0000-0002-2917-5889
Dorothea BuckDepartment of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.
Gisela AntonyCentral Information Office KKNMS, Philipps University Marburg, 35043 Marburg, Germany.ORCID 0000-0002-5367-6069
Antonios BayasDepartment of Neurology, Klinikum Augsburg, 86156 Augsburg, Germany.
Lukas BechmannDepartment of Neurology, University of Leipzig, 04103 Leipzig, Germany.; Institute of Medical Microbiology, Otto-von-Guericke University, 39120 Magdeburg, Germany.
Achim BertheleDepartment of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.
Andrew ChanDepartment of Neurology, St. Josef Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.; Department of Neurology, University Hospital Bern and University of Bern, 3010 Bern, Switzerland.
Christiane GasperiDepartment of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.
Ralf GoldDepartment of Neurology, St. Josef Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.
Christiane GraetzDepartment of Neurology, Focus Program Translational Neurosciences (FTN) and Research Center for Immunotherapy (FZI), Rhine-Main Neuroscience Network (rmn ), University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
Jürgen HaasDepartment of Neurology, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Michael HeckerDepartment of Neurology, University of Rostock, 18147 Rostock, Germany.
Carmen Infante-DuarteNeuroCure Clinical Research Center, Department of Neurology, and Experimental and Clinical Research Center, Max Delbrück Center for Molecular Medicine, and Charité University Medicine Berlin, 10117 Berlin, Germany.
Matthias KnopMax Planck Institute of Psychiatry, 80804 Munich, Germany.
Tania KümpfelInstitute of Clinical Neuroimmunology, Ludwigs-Maximilians-Universität, 81377 Munich, Germany.
Volker LimmrothDepartment of Neurology, Hospital Köln-Merheim, 51109 Köln, Germany.
Ralf A LinkerDepartment of Neurology, University Hospital Erlangen, 91054 Erlangen, Germany.
Verena LoleitDepartment of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.
Felix LuessiDepartment of Neurology, Focus Program Translational Neurosciences (FTN) and Research Center for Immunotherapy (FZI), Rhine-Main Neuroscience Network (rmn ), University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
Sven G MeuthDepartment of Neurology, Klinik für Allgemeine Neurologie, University of Münster, 48149 Münster, Germany.
Mark MühlauMunich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.
Sandra NischwitzMax Planck Institute of Psychiatry, 80804 Munich, Germany.
Friedemann PaulNeuroCure Clinical Research Center, Department of Neurology, and Experimental and Clinical Research Center, Max Delbrück Center for Molecular Medicine, and Charité University Medicine Berlin, 10117 Berlin, Germany.
Michael PützClinical Neuroimmunology Group, Department of Neurology, Philipps-University of Marburg, 35043 Marburg, Germany.
Tobias RuckDepartment of Neurology, Klinik für Allgemeine Neurologie, University of Münster, 48149 Münster, Germany.
Anke SalmenDepartment of Neurology, St. Josef Hospital, Ruhr-University Bochum, 44791 Bochum, Germany.; Department of Neurology, University Hospital Bern and University of Bern, 3010 Bern, Switzerland.
Martin StangelDepartment of Neurology, Hannover Medical School, 30625 Hannover, Germany.
Jan-Patrick StellmannInstitute of Neuroimmunology and Multiple Sclerosis and Department of Neurology, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany.ORCID 0000-0003-2565-2833
Klarissa H StürnerInstitute of Neuroimmunology and Multiple Sclerosis and Department of Neurology, University Medical Centre Hamburg-Eppendorf, 20251 Hamburg, Germany.ORCID 0000-0003-2199-3315
Björn TackenbergClinical Neuroimmunology Group, Department of Neurology, Philipps-University of Marburg, 35043 Marburg, Germany.
Florian Then BerghDepartment of Neurology and Translational Center for Regenerative Medicine, University of Leipzig, 04103 Leipzig, Germany.
Hayrettin TumaniDepartment of Neurology, University of Ulm, 89081 Ulm, Germany.; Neurological Clinic Dietenbronn, 88477 Schwendi, Germany.
Clemens WarnkeDepartment of Neurology, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany.
Frank WeberMax Planck Institute of Psychiatry, 80804 Munich, Germany.; Neurological Clinic, Medical Park, 65520 Bad Camberg, Germany.
Heinz WiendlDepartment of Neurology, Klinik für Allgemeine Neurologie, University of Münster, 48149 Münster, Germany.
Brigitte WildemannDepartment of Neurology, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Uwe K ZettlDepartment of Neurology, University of Rostock, 18147 Rostock, Germany.
Ulf ZiemannDepartment of Neurology and Stroke, and Hertie Institute for Clinical Brain Research, Eberhard-Karls-Universität Tübingen, 72076 Tübingen, Germany.ORCID 0000-0001-8372-3615
Frauke ZippDepartment of Neurology, Focus Program Translational Neurosciences (FTN) and Research Center for Immunotherapy (FZI), Rhine-Main Neuroscience Network (rmn ), University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.
Janine ArlothMax Planck Institute of Psychiatry, 80804 Munich, Germany.; Institute of Computational Biology, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Peter WeberMax Planck Institute of Psychiatry, 80804 Munich, Germany.
Milena Radivojkov-BlagojevicInstitute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.ORCID 0000-0001-5834-5122
Markus O ScheinhardtInstitut für Medizinische Biometrie und Statistik, Universität zu Lübeck, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, 23562 Lübeck, Germany.
Theresa DankowskiInstitut für Medizinische Biometrie und Statistik, Universität zu Lübeck, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, 23562 Lübeck, Germany.
Thomas BetteckenMax Planck Institute of Psychiatry, 80804 Munich, Germany.
Peter LichtnerInstitute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Darina CzamaraMax Planck Institute of Psychiatry, 80804 Munich, Germany.
Tania Carrillo-RoaMax Planck Institute of Psychiatry, 80804 Munich, Germany.
Elisabeth B BinderMax Planck Institute of Psychiatry, 80804 Munich, Germany.; Department of Psychiatry and Behavioral Sciences, Emory University, Atlanta, GA 30329, USA.
Klaus BergerInstitut für Epidemiologie und Sozialmedizin der Universität Münster, 48149 Münster, Germany.
Lars BertramLübeck Interdisciplinary Platform for Genome Analytics, Institutes of Neurogenetics and Integrative and Experimental Genomics, University of Lübeck, 23562 Lübeck, Germany.; School of Public Health, Faculty of Medicine, Imperial College London, SW7 2AZ London, UK.
Andre FrankeInstitute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany.
Christian GiegerResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Epidemiology II, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Stefan HermsInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.; Department of Biomedicine, Division of Medical Genetics, University of Basel, 4031 Basel, Switzerland.ORCID 0000-0002-2786-8200
Georg HomuthInterfaculty Institute for Genetics and Functional Genomics, Ernst Moritz Arndt University and University Medicine Greifswald, 17475 Greifswald, Germany.ORCID 0000-0001-6839-0605
Marcus IsingMax Planck Institute of Psychiatry, 80804 Munich, Germany.
Karl-Heinz JöckelInstitute of Medical Informatics, Biometry, and Epidemiology, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.
Tim KacprowskiInterfaculty Institute for Genetics and Functional Genomics, Ernst Moritz Arndt University and University Medicine Greifswald, 17475 Greifswald, Germany.ORCID 0000-0002-5393-2413
Stefan KloiberMax Planck Institute of Psychiatry, 80804 Munich, Germany.
Matthias LaudesDepartment I of Internal Medicine, Kiel University, 24105 Kiel, Germany.
Wolfgang LiebInstitute of Epidemiology and Biobank popgen, Kiel University, 24105 Kiel, Germany.
Christina M LillDepartment of Neurology, Focus Program Translational Neurosciences (FTN) and Research Center for Immunotherapy (FZI), Rhine-Main Neuroscience Network (rmn), University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany.; Lübeck Interdisciplinary Platform for Genome Analytics, Institutes of Neurogenetics and Integrative and Experimental Genomics, University of Lübeck, 23562 Lübeck, Germany.
Susanne LucaeMax Planck Institute of Psychiatry, 80804 Munich, Germany.
Thomas MeitingerInstitute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
Susanne MoebusInstitute of Medical Informatics, Biometry, and Epidemiology, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.
Martina Müller-NurasyidInstitute of Genetic Epidemiology, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Department of Medicine I, Ludwig-Maximilians-Universität, 81377 Munich, Germany.; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, 80802 Munich, Germany.
Markus M NöthenInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Astrid PetersmannInstitute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald, 17475 Greifswald, Germany.
Rajesh RawalResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Epidemiology II, Helmholtz Zentrum München, 85764 Neuherberg, Germany.ORCID 0000-0002-1465-0317
Ulf SchminkeDepartment of Neurology, University Medicine Greifswald, 17475 Greifswald, Germany.
Konstantin StrauchInstitute of Genetic Epidemiology, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Medical Informatics, Biometry, and Epidemiology, Chair of Genetic Epidemiology, Ludwig-Maximilians-Universität, 81377 Munich, Germany.
Henry VölzkeInstitute for Community Medicine, University Medicine Greifswald, 17475 Greifswald, Germany.
Melanie WaldenbergerResearch Unit of Molecular Epidemiology, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Epidemiology II, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Jürgen WellmannInstitut für Epidemiologie und Sozialmedizin der Universität Münster, 48149 Münster, Germany.
Eleonora PorcuIstituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy.
Antonella MulasIstituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, 07100 Sassari, Italy.
Maristella PitzalisIstituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy.
Carlo SidoreIstituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy.ORCID 0000-0001-7504-7477
Ilenia ZaraCenter for Advanced Studies, Research and Development in Sardinia (CRS4), Pula, 09010 Cagliari, Italy.
Francesco CuccaIstituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, 07100 Sassari, Italy.
Magdalena ZoledziewskaIstituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Monserrato, 09042 Cagliari, Italy.; Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, 07100 Sassari, Italy.ORCID 0000-0002-3033-6133
Andreas ZieglerInstitut für Medizinische Biometrie und Statistik, Universität zu Lübeck, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, 23562 Lübeck, Germany.; Zentrum für Klinische Studien, Universität zu Lübeck, 23562 Lübeck, Germany.; School of Mathematics, Statistics, and Computer Science, University of KwaZulu-Natal, Pietermaritzburg, Scottsville 3209, South Africa.
Bernhard HemmerMunich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.
Bertram Müller-MyhsokMax Planck Institute of Psychiatry, 80804 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Institute of Translational Medicine, University of Liverpool, Liverpool L69 3BX, UK.
Max Planck Institute of Psychiatry · DEHelmholtz Zentrum München · DETUM Klinikum · DEUniversity of Münster · DEJohannes Gutenberg University Mainz · DEInstitute of Genetic and Biomedical Research · ITPhilipps University of Marburg · DEUniversitätsmedizin Greifswald · DEUniversity Hospital Schleswig-Holstein · DEUniversity of Sassari · ITChristian-Albrechts-Universität zu Kiel · DEEssen University Hospital · DEHeidelberg University · DEMax Delbrück Center · DEUniversität Greifswald · DEUniversität Hamburg · DEUniversity of Bern · CHUniversity of Bonn · DEUniversity of Rostock · DECenter for Advanced Studies Research and Development in Sardinia · IT
Funding
Wellcome Trust 076113Wellcome Trust 085475
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.
Indexed as
Epigenesis, GeneticGenetic Predisposition to DiseaseAdolescentAdultAgedAged, 80 and overAllelesCase-Control StudiesCohort StudiesDNA-Binding ProteinsFemaleGenetic LociGenome-Wide Association StudyGlycine HydroxymethyltransferaseHumansMalec-MYC-associated zinc finger proteinDNA-Binding ProteinsERG protein, humanGlycine HydroxymethyltransferaseL3MBTL3 protein, humanSHMT protein, humanTranscriptional Regulator ERGTranscription FactorsDLEU1DNA methylationERGgenome-wide association studyL3MBTL3MAZMultiple sclerosisSHMT1
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