Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study

Recommended diagnostic criteria for multiple sclerosis: Guidelines from the international panel on the diagnosis of multiple sclerosis

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A haplotype map of the human genome

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The Future of Genetic Studies of Complex Human Diseases

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Diagnostic criteria for multiple sclerosis: 2005 revisions to the “McDonald Criteria”

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Axonal transection in the lesions of multiple sclerosis

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A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene

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A genome-wide association study identifies novel risk loci for type 2 diabetes

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Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

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A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

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Revised diagnostic criteria for neuromyelitis optica

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Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

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Simultaneous Genotype Calling and Haplotype Phasing Improves Genotype Accuracy and Reduces False-Positive Associations for Genome-wide Association Studies

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Altered expression of miR‐17‐5p in CD4+ lymphocytes of relapsing–remitting multiple sclerosis patients

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CD161highCD8+T cells bear pathogenetic potential in multiple sclerosis

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Copy Number Variants and Common Disorders: Filling the Gaps and Exploring Complexity in Genome-Wide Association Studies

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Environmental Risk Factors for Multiple Sclerosis: A Review with a Focus on Molecular Mechanisms

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Roles of CD48 in regulating immunity and tolerance

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Animal models of multiple sclerosis—Potentials and limitations

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The CD46-Jagged1 interaction is critical for human TH1 immunity

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Environmental risk factors for multiple sclerosis

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Interleukin-2 receptor signaling in regulatory T cell development and homeostasis

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Incidence of acquired CNS demyelinating syndromes in a multiethnic cohort of children

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The role of the CD58 locus in multiple sclerosis

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Oligodendrocyte death results in immune-mediated CNS demyelination

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Non-myeloablative autologous haematopoietic stem cell transplantation expands regulatory cells and depletes IL-17 producing mucosal-associated invariant T cells in multiple sclerosis

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Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

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Mucosal-associated invariant T cells regulate Th1 response in multiple sclerosis

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The epidemiology of multiple sclerosis

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Applications of deep learning techniques for automated multiple sclerosis detection using magnetic resonance imaging: A review

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Opposing effects of HLA class I molecules in tuning autoreactive CD8+ T cells in multiple sclerosis

Friese, M. A., Jakobsen, K. B., Friis, L. S., Etzensperger, R., Craner, M. J., McMahon, R. M., Jensen, L. T., Huygelen, V., Jones, E. Y., Bell, J. I., et al. (2008) · Nature Medicine · doi:10.1038/nm.1881 · Cited by 184

Environmental risk factors in multiple sclerosis

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Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

Sanna, S., Pitzalis, M., Zoledziewska, M., Zara, I., Sidore, C., Murru, R., Whalen, M. B., Busonero, F., Maschio, A., Costa, G., et al. (2010) · Nature Genetics · doi:10.1038/ng.584 · Cited by 187

Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study

Chang, A. L. S., Raber, I., Xu, J., Li, R., Spitale, R. C., Chen, J., Kiefer, A. K., Tian, C., Eriksson, N., Hinds, D. A., et al. (2015) · Journal of Investigative Dermatology · doi:10.1038/jid.2015.53 · Cited by 187

Reduced expression of the Kinesin-Associated Protein 3 ( KIFAP3 ) gene increases survival in sporadic amyotrophic lateral sclerosis

Landers, J. E., Melki, J., Meininger, V., Glass, J. D., van den Berg, L. H., van Es, M. A., Sapp, P. C., van Vught, P. W. J., McKenna-Yasek, D. M., Blauw, H. M., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812937106 · Cited by 190

Inflammation in multiple sclerosis

Haase, S., & Linker, R. A. (2021) · Therapeutic Advances in Neurological Disorders · doi:10.1177/17562864211007687 · Cited by 209

Genome-wide Association Studies of Posttraumatic Stress Disorder in 2 Cohorts of US Army Soldiers

Stein, M. B., Chen, C., Ursano, R. J., Cai, T., Gelernter, J. E., Heeringa, S. G., Jain, S., Jensen, K. P., Maihofer, A. X., Mitchell, C. M., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2016.0350 · Cited by 191

Animal models of multiple sclerosis: Focus on experimental autoimmune encephalomyelitis

Bjelobaba, I. M., Begović-Kuprešanin, V., Peković, S., & Lavrnja, I. C. (2018) · Journal of Neuroscience Research · doi:10.1002/jnr.24224 · Cited by 197

The X-linked histone demethylase Kdm6a in CD4+ T lymphocytes modulates autoimmunity

Itoh, Y., Golden, L. C., Itoh, N., Matsukawa, M. A., Ren, E., Tse, V., Arnold, A. P., & Voskuhl, R. R. (2019) · Journal of Clinical Investigation · doi:10.1172/jci126250 · Cited by 185

Biomarkers in multiple sclerosis

Housley, W. J., Pitt, D., & Hafler, D. A. (2015) · Clinical Immunology · doi:10.1016/j.clim.2015.06.015 · Cited by 194

Genetics and the environment converge to dysregulate N-glycosylation in multiple sclerosis

Mkhikian, H., Grigorian, A., Li, C. F., Chen, H.-L., Newton, B. L., Zhou, R. W., Beeton, C., Torossian, S., Tatarian, G. G., Lee, S.-U., et al. (2011) · Nature Communications · doi:10.1038/ncomms1333 · Cited by 183

Genotype–Phenotype correlations in multiple sclerosis: HLA genes influence disease severity inferred by 1HMR spectroscopy and MRI measures

Okuda, D. T., Srinivasan, R., Oksenberg, J. R., Goodin, D. S., Baranzini, S. E., Beheshtian, A., Waubant, E. L., Zamvil, S. S., Leppert, D., Qualley, P., et al. (2008) · Brain · doi:10.1093/brain/awn301 · Cited by 175

Soluble IL-2RA Levels in Multiple Sclerosis Subjects and the Effect of Soluble IL-2RA on Immune Responses

Maier, L. M., Anderson, D. E., Severson, C., Baecher‐Allan, C., Healy, B. C., Liu, D. V., Wittrup, K. D., Jager, P. L. D., & Hafler, D. A. (2009) · The Journal of Immunology · doi:10.4049/jimmunol.182.3.1541 · Cited by 175

Pathogenic CD8+ T cells in multiple sclerosis

Friese, M. A., & Fugger, L. H. (2009) · Annals of Neurology · doi:10.1002/ana.21744 · Cited by 170

Common viruses associated with lower pediatric multiple sclerosis risk

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Autoimmune Disease Classification by Inverse Association with SNP Alleles

Sirota, M., Schaub, M. A., Batzoglou, S., Robinson, W. H., & Butte, A. J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000792 · Cited by 170

Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility

Lincoln, M. R., Ramagopalan, S. V., Chao, M. J., Herrera, B. M., DeLuca, G. C., Orton, S. M., Dyment, D. A., Sadovnick, A. D., & Ebers, G. C. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812664106 · Cited by 169

Genetics of Multiple Sclerosis: An Overview and New DirectionsPreprint

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Evidence for Polygenic Susceptibility to Multiple Sclerosis—The Shape of Things to Come

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The expanding genetic overlap between multiple sclerosis and type I diabetes

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Multiple Sclerosis and Regulatory T Cells

Costantino, C. M., Baecher‐Allan, C., & Hafler, D. A. (2008) · Journal of Clinical Immunology · doi:10.1007/s10875-008-9236-x · Cited by 167

Multiple sclerosis-associated IL2RA polymorphism controls GM-CSF production in human TH cells

Hartmann, F. J., Khademi, M., Aram, J., Ammann, S., Kockum, I. S., Constantinescu, C. S., Gran, B., Piehl, F., Olsson, T. P., Deak, L. C., et al. (2014) · Nature Communications · doi:10.1038/ncomms6056 · Cited by 186

Inflamed target tissue provides a specific niche for highly expanded T-cell clones in early human autoimmune disease

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Advances in the immunopathogenesis of multiple sclerosis

Yadav, S. K., Mindur, J. E., Ito, K., & Dhib-Jalbut, S. S. (2015) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000205 · Cited by 173

Multiple sclerosis and the role of immune cells

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Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls

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MHC Class II Polymorphisms, Autoreactive T-Cells, and Autoimmunity

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Cell damage and autoimmunity: A critical appraisal

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Multiple Sclerosis Risk Variant HLA-DRB1*1501 Associates with High Expression of DRB1 Gene in Different Human Populations

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The genetics of autoimmune diseases: a networked perspective

Baranzini, S. E. (2009) · Current Opinion in Immunology · doi:10.1016/j.coi.2009.09.014 · Cited by 164

Human regulatory T cells and autoimmunity

Costantino, C. M., Baecher‐Allan, C., & Hafler, D. A. (2008) · European Journal of Immunology · doi:10.1002/eji.200738104 · Cited by 158

Biomarkers in Multiple SclerosisPreprint

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Epidemiology of Multiple Sclerosis

Ramagopalan, S. V., & Sadovnick, A. D. (2011) · Neurologic Clinics · doi:10.1016/j.ncl.2010.12.010 · Cited by 154

Unexpected Role for Granzyme K in CD56bright NK Cell-Mediated Immunoregulation of Multiple Sclerosis

Jiang, W., Chai, N. R., Maric, D., & Bielekova, B. (2011) · The Journal of Immunology · doi:10.4049/jimmunol.1100789 · Cited by 151

Safety and immunologic effects of high- vs low-dose cholecalciferol in multiple sclerosis

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Disturbed regulatory T cell homeostasis in multiple sclerosis

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A Function for IL-7R for CD4+CD25+Foxp3+ T Regulatory Cells

Bayer, A. L., Lee, J. Y., de la Barrera, A., Surh, C. D., & Malek, T. R. (2008) · The Journal of Immunology · doi:10.4049/jimmunol.181.1.225 · Cited by 157

Environmental factors in autoimmune diseases and their role in multiple sclerosis

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Soluble IL7Rα potentiates IL-7 bioactivity and promotes autoimmunity

Lundström, W., Highfill, S. L., Walsh, S. T. R., Beq, S., Morse, E., Kockum, I. S., Alfredsson, L. S., Olsson, T. P., Hillert, J. A., & Mackall, C. L. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1222303110 · Cited by 159

Immunopathogenesis of multiple sclerosis

Comabella, M., & Khoury, S. J. (2011) · Clinical Immunology · doi:10.1016/j.clim.2011.03.004 · Cited by 145

Autoimmune disease and subsequent risk of developing alimentary tract cancers among 4.5 million US male veterans

Landgren, A. M., Landgren, O., Gridley, G., Dores, G. M., Linet, M. S., & Morton, L. M. (2010) · Cancer · doi:10.1002/cncr.25524 · Cited by 151

Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

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Pleiotropic genes for metabolic syndrome and inflammation

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What Can Genome-Wide Association Studies Tell Us about the Genetics of Common Disease?

Iles, M. M. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.0040033 · Cited by 145

BDNF Polymorphism: A Review of Its Diagnostic and Clinical Relevance in Neurodegenerative Disorders

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FTY720 Rescue Therapy in the Dark Agouti Rat Model of Experimental Autoimmune Encephalomyelitis: Expression of Central Nervous System Genes and Reversal of Blood‐Brain‐Barrier Damage

Foster, C. A., Mechtcheriakova, D., Storch, M. K., Balatoni, B., Howard, L. M., Bornancin, F., Wlachos, A., Sobanov, J., Kinnunen, A., & Baumruker, T. (2008) · Brain Pathology · doi:10.1111/j.1750-3639.2008.00182.x · Cited by 143

An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in CD4+ T cells

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Natalizumab treatment is associated with peripheral sequestration of proinflammatory T cells

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Lack of TIM-3 Immunoregulation in Multiple Sclerosis

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The endocannabinoid system and its therapeutic exploitation in multiple sclerosis: Clues for other neuroinflammatory diseases

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Genome-wide association studies: a new window into immune-mediated diseases

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The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis

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CX3CR1 drives cytotoxic CD4+CD28− T cells into the brain of multiple sclerosis patients

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An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the HLA-DRB1 locus

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Unraveling the Genetics of Autoimmunity

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Anti–IL-7 receptor-α reverses established type 1 diabetes in nonobese diabetic mice by modulating effector T-cell function

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Multiple sclerosis genetics—is the glass half full, or half empty?

Oksenberg, J. R., & Baranzini, S. E. (2010) · Nature Reviews Neurology · doi:10.1038/nrneurol.2010.91 · Cited by 138

Epigenetics of Multiple Sclerosis: An Updated Review

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Modelling Genetic Susceptibility to Multiple Sclerosis with Family Data

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Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis

Manousaki, D., Dudding, T., Haworth, S. J., Hsu, Y., Liu, C., Medina‐Gómez, C., Voortman, T., van der Velde, N., Melhus, H., Robinson‐Cohen, C., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.014 · Cited by 139

Pathophysiology of multiple sclerosis

Korn, T. (2008) · Journal of Neurology · doi:10.1007/s00415-008-6001-2 · Cited by 147

Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis

Baranzini, S. E., Srinivasan, R., Khankhanian, P., Okuda, D. T., Nelson, S. J., Matthews, P. M., Hauser, S. L., Oksenberg, J. R., & Pelletier, D. (2010) · Brain · doi:10.1093/brain/awq192 · Cited by 132

Autoimmune diseases prior to the diagnosis of multiple sclerosis: a population-based case-control study

Langer-Gould, A. M., Albers, K., Eeden, S. K. V. D., & Nelson, L. M. (2010) · Multiple Sclerosis Journal · doi:10.1177/1352458510369146 · Cited by 135

The Inheritance of Resistance Alleles in Multiple Sclerosis

Ramagopalan, S. V., Morris, A. P., Dyment, D. A., Herrera, B. M., DeLuca, G. C., Lincoln, M. R., Orton, S. M., Chao, M. J., Sadovnick, A. D., & Ebers, G. C. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030150 · Cited by 135

Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians

Rubio, J. P., Stankovich, J. M., Field, J., Tubridy, N. J., Marriott, M. P., Chapman, C., Bahlo, M., Perera, D., Johnson, L., Tait, B. D., et al. (2008) · Genes and Immunity · doi:10.1038/gene.2008.59 · Cited by 133

IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations

Weber, F., Fontaine, B., Cournu‐Rebeix, I., Kroner, A., Knop, M., Lutz, S., Müller‐Sarnowski, F., Uhr, M., Bettecken, T., Kohli, M., et al. (2008) · Genes and Immunity · doi:10.1038/gene.2008.14 · Cited by 134

Role of Pathogens in Multiple Sclerosis

Libbey, J. E., Cusick, M. F., & Fujinami, R. S. (2013) · International Reviews of Immunology · doi:10.3109/08830185.2013.823422 · Cited by 136

Multiple sclerosis: molecular pathogenesis and therapeutic intervention

Boutitah-Benyaich, I., Eixarch, H., Villacieros‐Álvarez, J., Hervera, A., Cobo‐Calvo, Á., Montalbán, X., & Espejo, C. (2025) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-025-02415-4 · Cited by 149

An IL-2 Paradox: Blocking CD25 on T Cells Induces IL-2–Driven Activation of CD56bright NK Cells

Martin, J. F., Perry, J. S. A., Jakhete, N., Wang, X., & Bielekova, B. (2010) · The Journal of Immunology · doi:10.4049/jimmunol.0902238 · Cited by 126

Infection as an Environmental Trigger of Multiple Sclerosis Disease Exacerbation

Steelman, A. J. (2015) · Frontiers in Immunology · doi:10.3389/fimmu.2015.00520 · Cited by 131

The role of TGF-β superfamily signaling in neurological disorders

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Uncoupling the Roles of HLA-DRB1 and HLA-DRB5 Genes in Multiple Sclerosis

Caillier, S. J., Briggs, F. B. S., Cree, B., Baranzini, S. E., Fernández-Viña, M., Ramsay, P. P., Khan, O. A., Royal, W., Hauser, S. L., Barcellos, L. F., et al. (2008) · The Journal of Immunology · doi:10.4049/jimmunol.181.8.5473 · Cited by 126

N-Acetylglucosamine Inhibits T-helper 1 (Th1)/T-helper 17 (Th17) Cell Responses and Treats Experimental Autoimmune Encephalomyelitis

Grigorian, A., Araujo, L., Naidu, N. N., Place, D. J., Choudhury, B., & Demetriou, M. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.277814 · Cited by 132

Multiple sclerosis susceptibility alleles in African Americans

Johnson, B. A., Wang, J., Taylor, E. M., Caillier, S. J., Herbert, J., Khan, O. A., Cross, A. H., Jager, P. L. D., Gourraud, P., Cree, B., et al. (2009) · Genes and Immunity · doi:10.1038/gene.2009.81 · Cited by 126

HLA-DRB1∗0401 and HLA-DRB1∗0408 Are Strongly Associated with the Development of Antibodies against Interferon-β Therapy in Multiple Sclerosis

Hoffmann, S., Cepok, S., Grummel, V., Lehmann‐Horn, K., Hackermueller, J., Stadler, P. F., Hartung, H., Berthele, A., Deisenhammer, F., Wasmuth, R., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.07.006 · Cited by 125

CD161-Expressing Human T Cells

Fergusson, J. R., Fleming, V. M., & Klenerman, P. (2011) · Frontiers in Immunology · doi:10.3389/fimmu.2011.00036 · Cited by 129

Pathogenic T cell cytokines in multiple sclerosis

Wagner, C. A., Roqué, P. J., & Goverman, J. M. (2019) · The Journal of Experimental Medicine · doi:10.1084/jem.20190460 · Cited by 132

CD8+CD161+ T-Cells: Cytotoxic Memory Cells With High Therapeutic Potential

Konduri, V., Oyewole-Said, D., Vazquez‐Perez, J., Weldon, S. A., Halpert, M. M., Levitt, J. M., & Decker, W. K. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2020.613204 · Cited by 121

Epstein–Barr virus and multiple sclerosis

Salvetti, M., Giovannoni, G., & Aloisi, F. (2009) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32832b4c8d · Cited by 126

Obesity during childhood and adolescence increases susceptibility to multiple sclerosis after accounting for established genetic and environmental risk factors

Gianfrancesco, M. A., Acuna, B., Shen, L., Briggs, F. B. S., Quach, H., Bellesis, K. H., BERNSTEIN, A. L., Hedström, A. K., Kockum, I. S., Alfredsson, L. S., et al. (2014) · Obesity Research & Clinical Practice · doi:10.1016/j.orcp.2014.01.002 · Cited by 124

News in brief

(2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70214-4

Interleukin 7 receptor α chain ( IL7R ) shows allelic and functional association with multiple sclerosis

for the Multiple Sclerosis Genetics Group, Gregory, S. G., Schmidt, S., Seth, P., Oksenberg, J. R., Hart, J., Prokop, A., Caillier, S. J., Ban, M., Goris, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2103 · Cited by 657

Risk alleles for multiple sclerosis in multiplex families

D’Netto, M. J., Ward, H., Morrison, K., Ramagopalan, S. V., Dyment, D. A., DeLuca, G. C., Handunnetthi, L., Sadovnick, A. D., & Ebers, G. C. (2009) · Neurology · doi:10.1212/wnl.0b013e3181a92c25 · Cited by 62

Decoding multiple sclerosis: an update on genomics and future directions

Oksenberg, J. R. (2013) · Expert Review of Neurotherapeutics · doi:10.1586/14737175.2013.865867 · Cited by 66

Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility

Zuvich, R. L., McCauley, J. L., Oksenberg, J. R., Sawcer, S. J., Jager, P. L. D., Aubin, C., Cross, A. H., Piccio, L. M., Aggarwal, N. T., Evans, D. A., et al. (2010) · Human Genetics · doi:10.1007/s00439-010-0789-4 · Cited by 65