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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Open accessAbstract
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
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“The role of the adaptive arm of the immune system, particularly its CD4+ T cell component has become clearer, with multiple different T cell subsets being implicated.(4)”
From Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility (2019) · cites this paper as [4]
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“the role of B cells, dendritic cells and natural killer cells has emerged more clearly, broadening the prior narrative of T cell dysregulation that emerged from earlier studies.(4)”
From Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility (2019) · cites this paper as [4]
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“published efforts to systematically interrogate severity have, thus far, only involved modest numbers of cases, and unanimously fall short of identifying any convincingly associated genetic variants5,10,11.”
From Locus for severity implicates CNS resilience in progression of multiple sclerosis (2023) · cites this paper as [5]
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“refinement of the associations in the HLA region showed that just four variants are sufficient to account for the risk previously attributed to extended haplotype alleles spanning hundreds of kilobases (kb) and many tens of genes.”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [43]
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“the GWAS enrichment studies all point to risk being mediated by gene regulation in CD4+ T cells43”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [43]
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“Several studies have explored the genetic basis of clinical course, age of onset and severity, although no genome‐wide significant associations have been discovered.36, 37, 43, 74, 75, 76, 77”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [43]
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“Although these risk variants have been found to reduce the age at onset5, it is notable that they do not appear to have any impact on disease severity6.”
From Locus for severity implicates CNS resilience in progression of multiple sclerosis (2023) · cites this paper as [5]
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“A further expansion of the IMSGC resulted in a collaborative GWAS of 9772 cases and 17 376 controls, again of European descent, in 2011.43 This study replicated 23 of 26 previously identified associations and identified 29 novel risk loci.”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [43]
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“it became evident that these loci are strongly enriched for genes acting in T‐cell activation and proliferation pathways.”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [43]
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Cites
Gene Ontology: tool for the unification of biology
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206
Compston, A., & Coles, A. J. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61620-7 · Cited by 4,699
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162 · cited 1×
“However, even use of all seven top principal components that captured genome-wide effects in our data resulted in an unacceptably high genomic inflation: for example, the genomic control facto”
Variance component model to account for sample structure in genome-wide association studies
Kang, H. M., Sul, J. H., Service, S. K., Zaitlen, N. A., Kong, S.-Y., Freimer, N. B., Sabatti, C., & Eskin, E. (2010) · Nature Genetics · doi:10.1038/ng.548 · Cited by 2,817
Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study
(2007) · New England Journal of Medicine · doi:10.1056/nejmoa073493 · Cited by 1,746
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
Wellcome Trust Case Control Consortium, & The Australo-Anglo-American Spondylitis Consortium (TASC) (2007) · Nature Genetics · doi:10.1038/ng.2007.17 · Cited by 1,374
Strange, A., Spencer, C. C. A., Band, G., Bellenguez, C., Freeman, C., Pirinen, M., Rautanen, A., Su, Z., Donnelly, P., Capon, F., et al. (2010) · Nature Genetics · doi:10.1038/ng.694 · Cited by 1,056
International MS Genetics Consortium, De Jager, P. L., Jia, X., Wang, J., de Bakker, P. I. W., Ottoboni, L., Aggarwal, N. T., Piccio, L., Raychaudhuri, S., Tran, D., et al. (2009) · Nature Genetics · doi:10.1038/ng.401 · Cited by 800
The Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene) (2009) · Nature Genetics · doi:10.1038/ng.396 · Cited by 550
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis
Baranzini, S. E., Wang, J., Gibson, R. A., Galwey, N., Naegelin, Y., Barkhof, F., Radue, E.-W., Lindberg, R. L. P., Uitdehaag, B. M. G., Johnson, M. R., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddn388 · Cited by 476
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Items 701–800 of 1,003
Central role of Th2/Tc2 lymphocytes in pattern II multiple sclerosis lesions
Planas, R., Metz, I., Ortiz, Y. M., Vilarrasa, N., Jelčić, I., Salinas, G., Heesen, C., Brück, W., Martinꝉ, R., & Sospedra, M. (2015) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.218 · Cited by 49
Agnello, L., Scazzone, C., Ragonese, P., Salemi, G., Sasso, B. L., Schillaci, R., Musso, G., Bellia, C., & Ciaccio, M. (2015) · Neurological Sciences · doi:10.1007/s10072-015-2401-0 · Cited by 49
p53-dependent expression of CXCR5 chemokine receptor in MCF-7 breast cancer cells
Mitkin, N. A., Hook, C., Schwartz, A. M., Biswas, S., Кочетков, Д. В., Muratova, A. M., Afanasyeva, M., Kravchenko, J. E., Bhattacharyya, A., & Kuprash, D. V. (2015) · Scientific Reports · doi:10.1038/srep09330 · Cited by 49
Oligoclonal bands and age at onset correlate with genetic risk score in multiple sclerosis
Harbo, H. F., Isobe, N., Berg‐Hansen, P., Bos, S. D., Caillier, S. J., Gustavsen, M. W., Mero, I., Celius, E. G., Hauser, S. L., Oksenberg, J. R., et al. (2013) · Multiple Sclerosis Journal · doi:10.1177/1352458513506503 · Cited by 49
Stage-Specific Immune Dysregulation in Multiple Sclerosis
Segal, B. M. (2014) · Journal of Interferon & Cytokine Research · doi:10.1089/jir.2014.0025 · Cited by 49
Irf8-Regulated Genomic Responses Drive Pathological Inflammation during Cerebral Malaria
Berghout, J., Langlais, D., Radovanovic, I., Tam, M., MacMicking, J. D., Stevenson, M. M., & Gros, P. (2013) · PLoS Pathogens · doi:10.1371/journal.ppat.1003491 · Cited by 44
The genetics of multiple sclerosis
Lin, R., Charlesworth, J., van der Mei, I. A. F., & Taylor, B. V. (2012) · Practical Neurology · doi:10.1136/practneurol-2012-000276 · Cited by 51
Sud, A., Thomsen, H., Law, P., Försti, A., Filho, M. I. D. S., Holroyd, A., Broderick, P., Orlando, G., Lenive, O., Wright, L. B., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-00320-1 · Cited by 49
Linking Vitamin D Deficiency to Inflammatory Bowel Disease
Palmer, M. T., & Weaver, C. T. (2013) · Inflammatory Bowel Diseases · doi:10.1097/mib.0b013e31828a3b6f · Cited by 49
HLA-B7–Restricted EBV-Specific CD8+ T Cells Are Dysregulated in Multiple Sclerosis
Jilek, S., Schluep, M., Harari, A., Canales, M., Lysandropoulos, A. P., Ζεκερίδου, Α., Pantaleo, G., & Pasquier, R. D. (2012) · The Journal of Immunology · doi:10.4049/jimmunol.1103100 · Cited by 49
Pleiotropic Roles of P2X7 in the Central Nervous System
Kanellopoulos, J. M., & Delarasse, C. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00401 · Cited by 48
Ding, R., Quan, J., Yang, M. J., Wang, X., Zheng, E., Yang, H., Fu, D., Yang, Y., Yang, L., Li, Z., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0183244 · Cited by 49
Insular Celtic population structure and genomic footprints of migration
Byrne, R. P., Martiniano, R., Cassidy, L. M., Carrigan, M., Hellenthal, G., Hardiman, O. M., Bradley, D. G., & McLaughlin, R. L. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007152 · Cited by 48
Ozaki, Y., Suzuki, S., Kashiwase, K., Shigenari, A., Okudaira, Y., Ito, S., Masuya, A., Azuma, F., Yabe, T., Morishima, S., et al. (2015) · BMC Genomics · doi:10.1186/s12864-015-1514-4 · Cited by 48
Ragnedda, G., Leoni, S., Parpinel, M. T., Casetta, I., Riise, T., Myhr, K., Wolfson, C. M., & Pugliatti, M. (2015) · Journal of Neurology · doi:10.1007/s00415-015-7704-9 · Cited by 51
Sodium chloride, SGK1, and Th17 activation
Binger, K. J., Linker, R. A., Müller, D. N., & Kleinewietfeld, M. (2014) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-014-1659-z · Cited by 48
Multiple Sclerosis Susceptibility Genes: Associations with Relapse Severity and Recovery
Mowry, E. M., Carey, R. F., Quilez, M. R. B., Pelletier, J., Duquette, P., Villoslada, P., Irina Malikova, A., Roger, É., Kinkel, R. P., McDonald, J., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0075416 · Cited by 48
Genetics of systemic lupus erythematosus and Sjögren's syndrome: an update
Teruel, M., & Alarcón-Riquelme, M. E. (2016) · Current Opinion in Rheumatology · doi:10.1097/bor.0000000000000310 · Cited by 49
Population- and individual-specific regulatory variation in Sardinia
Pala, M., Zappala, Z., Marongiu, M., Li, X., Davis, J. R., Cusano, R., Crobu, F., Kukurba, K. R., Gloudemans, M. J., Reinier, F., et al. (2017) · Nature Genetics · doi:10.1038/ng.3840 · Cited by 49
Chen, X., Feng, L., Cai, B., Chen, X., & Chen, G. (2017) · The Journal of Comparative Neurology · doi:10.1002/cne.24311 · Cited by 49
Korenfeld, D., Gorvel, L., Munk, A., Man, J. J., Schaffer, A., Tung, T., Mann, C. M., & Klechevsky, E. (2017) · JCI Insight · doi:10.1172/jci.insight.96101 · Cited by 48
Dynamics and heterogeneity of brain damage in multiple sclerosis
Kotelnikova, E. A., Kiani, N. A., Abad, E. M., Martínez‐Lapiscina, E. H., Andorrà, M., Zubizarreta, I., Valdeolivas, I. P., Pertsovskaya, I., Alexopoulos, L. G., Olsson, T. P., et al. (2017) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1005757 · Cited by 50
Mendelian randomization in multiple sclerosis: A causal role for vitamin D and obesity?
Harroud, A., & Richards, J. B. (2018) · Multiple Sclerosis Journal · doi:10.1177/1352458517737373 · Cited by 48
Blockade of IL-6 signaling in neuromyelitis optica.
Araki, M. (2019) · Neurochemistry International · doi:10.1016/j.neuint.2018.10.012 · Cited by 44
Ma, D., Liu, Q., Zhang, M., Feng, J., Li, X., Zhou, Y. Q., & Wang, X. (2019) · Journal of Proteomics · doi:10.1016/j.jprot.2019.01.012 · Cited by 48
The Adaptive Immune System in Multiple Sclerosis: An Estrogen-Mediated Point of View
Maglione, A., Rolla, S., Mercanti, S. F. D., Cutrupi, S., & Clerico, M. (2019) · Cells · doi:10.3390/cells8101280 · Cited by 48
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Ruprecht, K. (2020) · Expert Review of Clinical Immunology · doi:10.1080/1744666x.2021.1847642 · Cited by 48
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Pain, O., Gillett, A. C., Austin, J., Folkersen, L., & Lewis, C. M. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-021-01028-z · Cited by 50
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Byun, D. J., Lee, J., Ko, K., & Hyun, Y. (2024) · Cell Communication and Signaling · doi:10.1186/s12964-023-01447-z · Cited by 47
The future for genetic studies in reproduction
Montgomery, G. W., Zondervan, K. T., & Nyholt, D. R. (2013) · Molecular Human Reproduction · doi:10.1093/molehr/gat058 · Cited by 48
Sex-Based Differences in Multiple Sclerosis (Part I): Biology of Disease Incidence
Dunn, S. E., Lee, H., Pavri, F. R., & Zhang, M. A. (2015) · Current topics in behavioral neurosciences · doi:10.1007/7854_2015_371 · Cited by 47
Orozco, G., Viatte, S., Bowes, J., Martin, P., Wilson, A. G., Morgan, A. W., Steer, S. E., Wordsworth, P., Hocking, L. J., Barton, A. C., et al. (2013) · Arthritis & Rheumatology · doi:10.1002/art.38196 · Cited by 47
Hellberg, S., Eklund, D., Gawel, D. R., Köpsén, M., Zhang, H., Nestor, C. E., Kockum, I. S., Olsson, T. P., Skogh, T., Kastbom, A., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.08.036 · Cited by 47
Dendritic cells in central nervous system autoimmunity
Sie, C., & Korn, T. (2016) · Seminars in Immunopathology · doi:10.1007/s00281-016-0608-7 · Cited by 47
Zhang, H., Hu, Q., Zhang, M., Yang, F., Peng, C., Zhang, Z., & Huang, C. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.02050 · Cited by 49
Increased HLA-DR expression and cortical demyelination in MS links with HLA-DR15
Enz, L., Zeis, T., Schmid, D., Geier, F. M., van der Meer, F., Steiner, G., Certa, U., Binder, T. M. C., Stadelmann, C., Martinꝉ, R., et al. (2019) · Neurology Neuroimmunology & Neuroinflammation · doi:10.1212/nxi.0000000000000656 · Cited by 47
Disease state prediction from single-cell data using graph attention networks
Ravindra, N. G., Sehanobish, A., Pappalardo, J. L., Hafler, D. A., & van Dijk, D. (2020) · ACM Conference on Health, Inference, and Learning (CHIL) · doi:10.1145/3368555.3384449 · Cited by 47
DNA methylation signature as a biomarker of major neuropsychiatric disorders
Shirvani-Farsani, Z., Maloum, Z., Bagheri‐Hosseinabadi, Z., Vilor‐Tejedor, N., & Sadeghi, I. (2021) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2021.06.013 · Cited by 46
Vandebergh, M., Degryse, N., Dubois, B., & Goris, A. (2022) · Journal of Neurology · doi:10.1007/s00415-022-11072-4 · Cited by 51
Cao, R., He, P., & Lei, S.-F. (2021) · Journal of Bone and Mineral Metabolism · doi:10.1007/s00774-021-01247-w · Cited by 48
A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity
Esposito, F., Sorosina, M., Ottoboni, L., Lim, E. T., Replogle, J. M., Raj, T., Brambilla, P., Liberatore, G., Guaschino, C., Romeo, M. A. L., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24429 · Cited by 48
Towards a ‘systems’-level understanding of the nervous system and its disorders
Qureshi, I., & Mehler, M. F. (2013) · Trends in Neurosciences · doi:10.1016/j.tins.2013.07.003 · Cited by 47
Pathogenesis of multiple sclerosis via environmental and genetic dysregulation of N-glycosylation
Grigorian, A., Mkhikian, H., Li, C. F., Newton, B. L., Zhou, R. W., & Demetriou, M. (2012) · Seminars in Immunopathology · doi:10.1007/s00281-012-0307-y · Cited by 50
Semaphorins 3A and 7A: potential immune and neuroregenerative targets in multiple sclerosis
Eixarch, H., Gutiérrez-Franco, A., Montalbán, X., & Espejo, C. (2013) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2013.01.003 · Cited by 46
Buck, D., Albrecht, E., Aslam, M., Goris, A., Hauenstein, N., Jochim, A., Cepok, S., Grummel, V., Dubois, B., Berthele, A., et al. (2012) · Annals of Neurology · doi:10.1002/ana.23749 · Cited by 48
Pathoetiology of multiple sclerosis: are we barking up the wrong tree?
Stys, P. K. (2013) · F1000Prime Reports · doi:10.12703/p5-20 · Cited by 47
Langlais, D., Fodil, N., & Gros, P. (2016) · Annual Review of Immunology · doi:10.1146/annurev-immunol-051116-052442 · Cited by 47
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Sun, Q., Xie, N., Tang, B., Li, R., & Shen, Y. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00319 · Cited by 46
Hart, P. H., Jones, A. P., Trend, S., Cha, L., Fabis‐Pedrini, M. J., Cooper, M. N., D’Este, C. A., Geldenhuys, S., Carroll, W. M., Byrne, S. N., et al. (2018) · Multiple Sclerosis Journal - Experimental Translational and Clinical · doi:10.1177/2055217318773112 · Cited by 46
Aponte, J. L., Chiano, M. N., Yerges-Armstrong, L. M., Hinds, D. A., Tian, C., Gupta, A., Guo, C., Fraser, D. J., Freudenberg, J., Rajpal, D. K., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy184 · Cited by 48
Different epigenetic clocks reflect distinct pathophysiological features of multiple sclerosis
Theodoropoulou, E., Alfredsson, L. S., Piehl, F., Marabita, F., & Jagodic, M. (2019) · Epigenomics · doi:10.2217/epi-2019-0102 · Cited by 47
Epigenetic insights into multiple sclerosis disease progression
Kular, L., & Jagodic, M. (2020) · Journal of Internal Medicine · doi:10.1111/joim.13045 · Cited by 49
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Factor, D. C., Barbeau, A. M., Allan, K. C., Hu, L. R., Madhavan, M., Hoang, A. T., Hazel, K. E. A., Hall, P. A., Nisraiyya, S., Najm, F. J., et al. (2020) · Cell · doi:10.1016/j.cell.2020.03.002 · Cited by 48
Elvsåshagen, T., Bahrami, S., van der Meer, D., Agartz, I., Alnæs, D., Barch, D. M., Baur‐Streubel, R., Bertolino, A., Beyer, M. K., Blasi, G., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17376-1 · Cited by 47
Chen, H., Shen, L., Liu, Y., Ma, X., Long, L., Ma, X., Ma, L., Chen, Z., Lin, X., Si, L., et al. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.628629 · Cited by 48
Bergman, P., James, T., Kular, L., Ruhrmann, S., Kramarova, T. V., Kvist, A., Šupić, G., Gillett, A., Pivarcsi, A., & Jagodic, M. (2013) · The Journal of Immunology · doi:10.4049/jimmunol.1200728 · Cited by 47
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Chen, L., Li, B., Yang, W., He, J., Li, N., Hu, J., He, Y. F., Yu, S., Zhao, Z., Luo, P., et al. (2012) · Gastroenterology · doi:10.1053/j.gastro.2012.12.002 · Cited by 46
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Berge, T., Leikfoss, I., & Harbo, H. (2013) · International Journal of Molecular Sciences · doi:10.3390/ijms14034476 · Cited by 45
Liu, G., Zhang, F., Jiang, Y., Hu, Y., Gong, Z., Liu, S., Chen, X., Jiang, Q., & Hao, J. (2016) · Multiple Sclerosis Journal · doi:10.1177/1352458516649038 · Cited by 45
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Ban, M., Caillier, S. J., Mero, I., Myhr, K., Celius, E. G., Aarseth, J. H., Torkildsen, Ø., Harbo, H. F., Oksenberg, J. R., Hauser, S. L., et al. (2012) · Annals of Neurology · doi:10.1002/ana.23833 · Cited by 45
Field, J., Shahijanian, F., Schibeci, S. D., Johnson, L., Gresle, M. M., Laverick, L., Parnell, G. P., Stewart, G. J., McKay, F. C., Kilpatrick, T. J., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0127080 · Cited by 45
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Matesanz, F., González‐Pérez, A., Lucas, M., Sanna, S., Gayán, J., Urcelay, E., Zara, I., Pitzalis, M., Cavanillas, M. L., Arroyo, R., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036140 · Cited by 45
Fanouriakis, A., Mastorodemos, V. C., Pamfil, C. A. M., Papadaki, E. Z., Sidiropoulos, P. I., Plaitakis, A., Amoiridis, G., Bertsias, G. K., & Boumpas, D. T. (2013) · Seminars in Arthritis and Rheumatism · doi:10.1016/j.semarthrit.2013.11.007 · Cited by 45
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Myhr, K.-M., Grytten, N., Torkildsen, Ø., Wergeland, S., Bø, L., & Aarseth, J. H. (2015) · Acta Neurologica Scandinavica · doi:10.1111/ane.12427 · Cited by 45
Ruhrmann, S., Ewing, E., Piket, E., Kular, L., Lorenzi, J. C. C., Fernandes, S. J., Morikawa, H., Aeinehband, S., Sayols-Baixeras, S., Aslibekyan, S. W., et al. (2017) · Multiple Sclerosis Journal · doi:10.1177/1352458517721356 · Cited by 45
Matute‐Blanch, C., Montalbán, X., & Comabella, M. (2017) · Handbook of clinical neurology · doi:10.1016/b978-0-12-804279-3.00005-8 · Cited by 45
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James, T., Lindén, M., Morikawa, H., Fernandes, S. J., Ruhrmann, S., Huss, M., Brandi, M., Piehl, F., Jagodic, M., Tegner, J. N., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy001 · Cited by 47
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Rhead, B., Brorson, I. S., Berge, T., Adams, C., Quach, H., Moen, S. M., Berg‐Hansen, P., Celius, E. G., Sangurdekar, D. P., Bronson, P. G., et al. (2018) · PLoS ONE · doi:10.1371/journal.pone.0206511 · Cited by 46
Ma, J., Han, W., & Jiang, L. (2019) · Brain and Development · doi:10.1016/j.braindev.2019.09.003 · Cited by 45
Ji, Z., Fan, Z., Zhang, Y., Yu, R., Yang, H., Zhou, C., Luo, J., & Ke, Z. (2014) · The Journal of Immunology · doi:10.4049/jimmunol.1302702 · Cited by 45
The conundrum of iron in multiple sclerosis – time for an individualised approach
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Sethi, I., Bhat, G. R., Singh, V., Kumar, R., Bhanwer, A. J. S., Bamezai, R. N. K., Sharma, S., & Rai, E. (2016) · Diabetes Research and Clinical Practice · doi:10.1016/j.diabres.2016.10.015 · Cited by 45
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Olsson, L. M., & Holmdahl, R. (2012) · European Journal of Immunology · doi:10.1002/eji.201242601 · Cited by 44
Kumar, A., Cocco, E. E., Atzori, L., Marrosu, M. G., & Pieroni, E. (2013) · PLoS ONE · doi:10.1371/journal.pone.0059711 · Cited by 44
Abundant kif21b is associated with accelerated progression in neurodegenerative diseases
Kreft, K. L., van Meurs, M., Wierenga‐Wolf, A. F., Melief, M., van Strien, M. E., Hol, E. M., Oostra, B. A., Laman, J. D., & Hintzen, R. Q. (2014) · Acta Neuropathologica Communications · doi:10.1186/s40478-014-0144-4 · Cited by 44
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Umbilical cord mesenchymal stem cell transplantation in the treatment of multiple sclerosis.
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Hiltensperger, M., & Korn, T. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a029637 · Cited by 45
Sánchez‐Fernández, A., Zandee, S., Amo‐Aparicio, J., Charabati, M., Prat, A., Garlanda, C., Eisenmesser, E. Z., Dinarello, C. A., & López‐Vales, R. (2020) · Theranostics · doi:10.7150/thno.47435 · Cited by 43
Yoshimura, S., Isobe, N., Matsushita, T., Masaki, K., Sato, S., Kawano, Y., Ochi, H., & Kira, J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0095367 · Cited by 43
Genetic variations in interleukin-12 related genes in immune-mediated diseases
van Wanrooij, R. L. J., Zwiers, A., Kraal, G., & Bouma, G. (2012) · Journal of Autoimmunity · doi:10.1016/j.jaut.2012.06.002 · Cited by 44
Tob1 plays a critical role in the activation of encephalitogenic T cells in CNS autoimmunity
Schulze‐Topphoff, U., Casazza, S., Varrin‐Doyer, M., Pekarek, K. L., Sobel, R. A., Hauser, S. L., Oksenberg, J. R., Zamvil, S. S., & Baranzini, S. E. (2013) · The Journal of Experimental Medicine · doi:10.1084/jem.20121611 · Cited by 43
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The ‘People of the British Isles’ project and Viking settlement in England
Kershaw, J. F., & Røyrvik, E. C. (2016) · Antiquity · doi:10.15184/aqy.2016.193 · Cited by 42
Thymic mimetic cells: tolerogenic masqueraders
Michelson, D. A., & Mathis, D. J. (2022) · Trends in Immunology · doi:10.1016/j.it.2022.07.010 · Cited by 46
Cocco, E. E., Meloni, A., Murru, M. R., Corongiu, D., Tranquilli, S., Fadda, E., Murru, R., Schirru, L., Secci, M. A., Costa, G., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0041678 · Cited by 42
Kaushansky, N., Altmann, D. M., David, C. S., Lassmann, H., & Ben‐Nun, A. (2012) · Journal of Neuroinflammation · doi:10.1186/1742-2094-9-29 · Cited by 42
Muñoz‐Culla, M., Irizar, H., Sáenz-Cuesta, M., Castillo‐Triviño, T., Osorio-Querejeta, I., Sepúlveda, L., de Munaín, A. L., Olascoaga, J., & Otaegui, D. (2016) · Scientific Reports · doi:10.1038/srep20126 · Cited by 44
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Valori, M., Jansson, L., Kiviharju, A., Ellonen, P., Rajala, H. L. M., Awad, S. A., Mustjoki, S. M., & Tienari, P. J. (2016) · Clinical Immunology · doi:10.1016/j.clim.2016.11.018 · Cited by 42
Metadata
- Authors
- The International Multiple Sclerosis Genetics Consortium & The Wellcome Trust Case Control Consortium 2
- Venue
- Nature
- Published
- 2011-08
- Volume
- 476
- Issue
- 7359
- Pages
- 214-219
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3182531
- OpenAlex
- W2040547343
- Cited by
- 2,697
- References
- 26
- Citations by year
- 2026: 72 · 2025: 101 · 2024: 112 · 2023: 111 · 2022: 136 · 2021: 155 · 2020: 167 · 2019: 173 · 2018: 178 · 2017: 215 · 2016: 220 · 2015: 273 · 2014: 244 · 2013: 279 · 2012: 223
- FWCI
- 175.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Discovery Research Portal (University of Dundee) (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, other-oa)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- LSHTM Research Online (London School of Hygiene and Tropical Medicine) (acceptedVersion)
- Keele Research Repository (Keele University) (submittedVersion, cc-by)
- PEARL (University of Plymouth) (submittedVersion)
- eCite Digital Repository (University of Tasmania) (submittedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- Murdoch University Research Portal (submittedVersion)
- Arrow@dit (Dublin Institute of Technology) (submittedVersion, cc-by-nc-sa)
- HAL (submittedVersion)
- MDC Repository (Max-Delbrueck-Center for Molecular Medicine) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Figshare (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- Minerva Access (University of Melbourne) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Site cant be reached (submittedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Griffith Research Online (submittedVersion)
- VUBIR (Vrije Universiteit Brussel) (submittedVersion)
- STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion, other-oa)
- Faculty of Health; Institute of Health and Biomedical Innovation
- Zurich Open Repository and Archive (University of Zurich)
- Funders
- Susan G. Komen for the Cure
- Biogen
- Kaiser Permanente
- Children's Hospital of Philadelphia
- Fondazione CRT
- Fondation pour l'Aide à la Recherche sur la Sclérose en Plaques
- Institute of Clinical and Translational Sciences
- Scleroseforeningen
- Helsingin ja Uudenmaan Sairaanhoitopiiri
- Wellcome Trust (085475/Z/08/Z, 068545/Z/02), 085475, G0000934, 075491, 068545, 075491/Z/04,, 090532, 085475/B/08/Z, 084702)
- National Institute for Health and Care Research (G0000934, NF-SI-0507-10379, PDA/02/06/016)
- Parkinson's UK (G0909, J‐0804)
- Multiple Sclerosis Society (898/08)
- Multiple Sclerosis Australia
- Deutsche Forschungsgemeinschaft
- Agence Nationale de la Recherche (ANR-10-INBS-0001)
- Institut National de la Santé et de la Recherche Médicale
- Forskningsrådet för Arbetsliv och Socialvetenskap
- Academy of Finland
- Fonds Wetenschappelijk Onderzoek
- Ministero della Salute (502/92, D.lgs 502/92)
- Hjärnfonden
- Knut och Alice Wallenbergs Stiftelse
- Stockholms Läns Landsting (562183)
- Norges Forskningsråd
- Regione Piemonte (502/92)
- Haukeland Universitetssjukehus
- Vlaamse regering
- National Institutes of Health (5r01ns019142-03, G0000934, 075491/Z/04, 068545/Z/02, UL1TR000448, NS43559, NS19142, RR024992, CA104021, NS049477)
- U.S. Public Health Service (K23N/S048869)
- Medical Research Council (MC_EX_G0800860, 068545/Z/02, G0000934)
- National Health and Medical Research Council (G0000934)
- Helmholtz Zentrum München
- National Cancer Institute (R01CA104021, CA104021)
- National Institute of Allergy and Infectious Diseases (AI076544, R01AI076544)
- Fogarty International Center (K01TW009996)
- National Institute of Neurological Disorders and Stroke (NS067305, NS26799, NS 43559, NS032830, NS049477, NS19142, R01NS032830, R01NS043559, R01NS026799, R01NS049510, R01NS067305, NS049510, R01NS049477)
- National Center for Research Resources (RR020092, C06RR020092, RR-024992, UL1RR024992)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Clinical Neurology › Multiple Sclerosis Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Immunology and Microbiology › Immunology › Psoriasis: Treatment and Pathogenesis
- Keywords
- multiple sclerosis, genetic susceptibility, genome-wide association study, major histocompatibility complex, T helper cell differentiation, cell-mediated immunity, neuroinflammation, neurodegeneration, pathogenesis, genetic susceptibility loci
- MeSH terms
- Alleles, Cell Differentiation, Europe, T-Lymphocytes, Helper-Inducer, HLA-DR Antigens, Humans, Immunity, Cellular, Major Histocompatibility Complex, Multiple Sclerosis, HLA-A Antigens, Genome, Human, Sample Size, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study, HLA-DRB1 Chains
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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