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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.”
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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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Citations
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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Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits
Graßmann, F., Kiel, C., Zimmermann, M. E., Gorski, M., Grassmann, V., Stark, K. J., Heid, I. M., & Weber, B. H. F. (2017) · Genome Medicine · doi:10.1186/s13073-017-0418-0 · Cited by 61
Western lifestyle and immunopathology of multiple sclerosis
Matveeva, O., Bogie, J. F. J., Hendriks, J. J. A., Linker, R. A., Haghikia, A., & Kleinewietfeld, M. (2018) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.13583 · Cited by 65
Germline Features Associated with Immune Infiltration in Solid Tumors
Shahamatdar, S., He, M. X., Reyna, M. A., Gusev, A., AlDubayan, S. H., Allen, E. M. V., & Ramachandran, S. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.02.039 · Cited by 61
Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity
Jokubaitis, V., Campagna, M. P., Ibrahim, O., Stankovich, J. M., Kleinová, P., Matesanz, F., Hui, D., Eichau, S., Slee, M., Lechner‐Scott, J., et al. (2022) · Brain · doi:10.1093/brain/awac449 · Cited by 64
Gandy, K. A. O., Zhang, J., Nagarkatti, P. S., & Nagarkatti, M. (2019) · Journal of Neuroimmune Pharmacology · doi:10.1007/s11481-019-09842-5 · Cited by 62
Weinstock, N. I., Shin, D., Dhimal, N., Hong, X., Irons, E. E., Silvestri, N. J., Reed, C. B., Nguyen, D. A., Sampson, O., Cheng, Y., et al. (2020) · Neuron · doi:10.1016/j.neuron.2020.03.031 · Cited by 62
Therapeutic approaches for celiac disease
Plugis, N. M., & Khosla, C. (2015) · Best Practice & Research Clinical Gastroenterology · doi:10.1016/j.bpg.2015.04.005 · Cited by 59
Importance of Human Leukocyte Antigen (HLA) Class I and II Alleles on the Risk of Multiple Sclerosis
Link, J., Kockum, I. S., Lorentzen, Å. R., Lie, B. A., Celius, E. G., Westerlind, H., Schaffer, M., Alfredsson, L. S., Olsson, T. P., Brynedal, B., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036779 · Cited by 59
Multiple sclerosis: basic knowledge and new insights in perioperative management
Μakris, A., Piperopoulos, A., & Karmaniolou, I. I. (2013) · Journal of Anesthesia · doi:10.1007/s00540-013-1697-2 · Cited by 59
Hirokawa, M., Morita, H., Tajima, T., Takahashi, A., Ashikawa, K., Miya, F., Shigemizu, D., Ozaki, K., Sakata, Y., Nakatani, D., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.110 · Cited by 59
miR-15a and 16-1 Are Downregulated in CD4+T Cells of Multiple Sclerosis Relapsing Patients
Lorenzi, J. C. C., Brum, D. G., Zanette, D. L., Souza, A. D. P. A., Barbuzano, F. G., dos Santos, A. C., Barreira, A. A., & Silva, W. A. (2012) · International Journal of Neuroscience · doi:10.3109/00207454.2012.678444 · Cited by 59
Hundeshagen, A., Hecker, M., Paap, B. K., Angerstein, C., Kandulski, O., Fatum, C., Hartmann, C., Koczan, D., Thiesen, H., & Zettl, U. K. (2012) · Journal of Neuroinflammation · doi:10.1186/1742-2094-9-140 · Cited by 61
The transcription factor BACH2 promotes tumor immunosuppression
Roychoudhuri, R., Eil, R. L., Clever, D. C., Klebanoff, C. A., Sukumar, M., Grant, F. M., Yu, Z., Mehta, G. U., Liu, H., Jin, P., et al. (2016) · Journal of Clinical Investigation · doi:10.1172/jci82884 · Cited by 59
Allan, E. R. O., Campden, R. I., Ewanchuk, B. W., Tailor, P., Balce, D. R., McKenna, N. T., Greene, C. J., Warren, A. L., Reinheckel, T., & Yates, R. M. (2017) · Journal of Neuroinflammation · doi:10.1186/s12974-017-0874-x · Cited by 63
The interaction between smoking and HLA genes in multiple sclerosis: replication and refinement
Hedström, A. K., Katsoulis, M., Hössjer, O., Bomfim, I. L., Oturai, A. B., Søndergaard, H. B., Sellebjerg, F. T., Ullum, H., Thørner, L. W., Gustavsen, M. W., et al. (2017) · European Journal of Epidemiology · doi:10.1007/s10654-017-0250-2 · Cited by 61
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Lahmann, A., Kuhrau, J., Fuhrmann, F., Heinrich, F., Bauer, L., Durek, P., Mashreghi, M., & Hutloff, A. (2019) · The Journal of Immunology · doi:10.4049/jimmunol.1801400 · Cited by 60
Recent advances in understanding multiple sclerosis
Stys, P. K., & Tsutsui, S. (2019) · F1000Research · doi:10.12688/f1000research.20906.1 · Cited by 60
Gustavsen, M. W., Page, C. M., Moen, S. M., Bjølgerudl, A., Berg‐Hansen, P., Nygaard, G. O., Sandvik, L., Lie, B. A., Celius, E. G., & Harbo, H. F. (2014) · BMC Neurology · doi:10.1186/s12883-014-0196-x · Cited by 58
Meyer, M. B., Benkusky, N. A., Kaufmann, M., Lee, S. M., Redfield, R. R., Jones, G., & Pike, J. W. (2019) · Journal of Biological Chemistry · doi:10.1074/jbc.ra119.008760 · Cited by 58
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Ruggiero, M., Calvello, R., Porro, C., Messina, G., Cianciulli, A., & Panaro, M. A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232112958 · Cited by 59
Autophagy pathways in autoimmune diseases
Keller, C. W., Adamopoulos, I. E., & Lünemann, J. D. (2023) · Journal of Autoimmunity · doi:10.1016/j.jaut.2023.103030 · Cited by 58
Pandey, R., Bakay, M. A., & Hakonarson, H. H. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1271102 · Cited by 59
Cree, B. (2014) · Handbook of clinical neurology · doi:10.1016/b978-0-444-52001-2.00009-1 · Cited by 62
Obesity interacts with infectious mononucleosis in risk of multiple sclerosis
Hedström, A. K., Bomfim, I. L., Hillert, J. A., Olsson, T. P., & Alfredsson, L. S. (2014) · European Journal of Neurology · doi:10.1111/ene.12620 · Cited by 61
Adverse socioeconomic position during the life course is associated with multiple sclerosis
Briggs, F. B. S., Acuna, B., Shen, L., Bellesis, K. H., Ramsay, P. P., Quach, H., BERNSTEIN, A. L., Schaefer, C. A., & Barcellos, L. F. (2014) · Journal of Epidemiology & Community Health · doi:10.1136/jech-2013-203184 · Cited by 58
Behrens, J. R., Rasche, L., Gieß, R. M., Pfuhl, C., Wakonig, K. M., Freitag, E., Deuschle, K., Bellmann–Strobl, J., Paul, F., Ruprecht, K., et al. (2015) · European Journal of Neurology · doi:10.1111/ene.12788 · Cited by 58
Link, J., Ryner, M. L., Fink, K., Hermanrud, C. E., Bomfim, I. L., Brynedal, B., Kockum, I. S., Hillert, J. A., & Fogdell‐Hahn, A. (2014) · PLoS ONE · doi:10.1371/journal.pone.0090479 · Cited by 57
Eomesodermin Expression in CD4+ T Cells Restricts Peripheral Foxp3 Induction
Lupar, E., Brack, M., Garnier, L., Laffont, S., Rauch, K. S., Schachtrup, K., Arnold, S. J., Guéry, J., & Ízcue, A. (2015) · The Journal of Immunology · doi:10.4049/jimmunol.1501159 · Cited by 60
Sulfonylurea Receptor 1 in Central Nervous System Injury: An Updated Review
Jha, R. M., Rani, A., Desai, S. M., Raikwar, S. P., Mihaljević, S., Munoz-Casabella, A., Kochanek, P. M., Catapano, J. S., Winkler, E. A., Citerio, G., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222111899 · Cited by 60
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Vakrakou, A. G., Alexaki, A., Brinia, M.-E., Anagnostouli, M. C., Stefanis, L., & Stathopoulos, P. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23158077 · Cited by 65
Xiao, D., Ye, X., Zhang, N., Ou, M., Guo, C., Zhang, B., Liu, Y., Wang, M., Yang, G., & Jing, C. (2015) · Scientific Reports · doi:10.1038/srep18083 · Cited by 57
Cardona, S. M., Kim, S. V., Church, K. A., Torres, V. O., Cleary, I. A., Mendiola, A. S., Saville, S. P., Watowich, S. S., Parker‐Thornburg, J., Soto-Ospina, A., et al. (2018) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2018.00365 · Cited by 58
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Segal, B. M. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8010120 · Cited by 60
Ransohoff, R. M. (2023) · Trends in Immunology · doi:10.1016/j.it.2023.02.002 · Cited by 57
Mero, I., Gustavsen, M. W., Sæther, H. S., Flåm, S. T., Berg‐Hansen, P., Søndergaard, H. B., Jensen, P. E., Berge, T., Bjølgerud, A., Muggerud, A. A., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0058352 · Cited by 56
A genome-wide association study of brain lesion distribution in multiple sclerosis
Gourraud, P., Sdika, M., Khankhanian, P., Henry, R. G., Beheshtian, A., Matthews, P. M., Hauser, S. L., Oksenberg, J. R., Pelletier, D., & Baranzini, S. E. (2013) · Brain · doi:10.1093/brain/aws363 · Cited by 58
Genome-wide association study of recalcitrant atopic dermatitis in Korean children
Kim, K. W., Myers, R. A., Lee, J. H., Igartua, C., Lee, K. E., Kim, Y. H., Kim, E., Yoon, D., Lee, J.-S., Hirota, T., et al. (2015) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2015.03.030 · Cited by 58
Pękalski, M. Ł., Ferreira, R. C., Coulson, R., Cutler, A. J., Guo, H., Smyth, D. J., Downes, K., Dendrou, C. A., Dopico, X. C., Esposito, L., et al. (2013) · The Journal of Immunology · doi:10.4049/jimmunol.1202914 · Cited by 56
Modelling the natural history of primary progressive multiple sclerosis
Harding, K. E., Wardle, M., Moore, P., Tomassini, V., Pickersgill, T. P., Ben‐Shlomo, Y., & Robertson, N. P. (2014) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2014-307791 · Cited by 58
Cutforth, T., DeMille, M. M. C., Agalliu, I., & Agalliu, D. (2016) · Future Neurology · doi:10.2217/fnl.16.4 · Cited by 58
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis
Jia, X., Madireddy, L., Caillier, S. J., Santaniello, A., Esposito, F., Comı, G., Stüve, O., Zhou, Y., Taylor, B. V., Kilpatrick, T. J., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25263 · Cited by 56
Xia, Z., White, C. C., Owen, E. K., Korff, A. V., Clarkson, S. R., Aubin, C., Cimpean, M., Winn, P. A., Hoesing, A. N., Steele, S. U., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24560 · Cited by 55
Anti‐inflammatory effects of melatonin in multiple sclerosis
Farez, M., Calandri, I. L., Correale, J. D., & Quintana, F. J. (2016) · BioEssays · doi:10.1002/bies.201600018 · Cited by 55
Sospedra, M. (2018) · Current Opinion in Neurology · doi:10.1097/wco.000000000000563 · Cited by 57
Maltby, V. E., Lea, R. A., Graves, M. C., Sanders, K. A., Benton, M. C., Tajouri, L., Scott, R. J., & Lechner‐Scott, J. (2018) · Scientific Reports · doi:10.1038/s41598-018-35603-0 · Cited by 58
Willis, C. M., Nicaise, A. M., Ménoret, A., Ryu, J. K., Mendiola, A. S., Jellison, E. R., Givogri, M. I., Han, D. K. M., Bongarzone, E. R., Akassoglou, K., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1816911116 · Cited by 56
The role of melatonin in Multiple Sclerosis
Skarlis, C., & Anagnostouli, M. C. (2019) · Neurological Sciences · doi:10.1007/s10072-019-04137-2 · Cited by 56
Ormstad, H., Simonsen, C. S., Broch, L., Maes, M. H. J., Anderson, G., & Celius, E. G. (2020) · Multiple Sclerosis and Related Disorders · doi:10.1016/j.msard.2020.102533 · Cited by 56
Troletti, C. D., Enzmann, G. U., Chiurchiù, V., Kamermans, A., Tietz, S., Norris, P. C., Jahromi, N. H., Leuti, A., van der Pol, S. M. A., Schouten, M., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.109201 · Cited by 56
Borkosky, S. S., Whitley, C., Kopp‐Schneider, A., Hausen, H. Z., & deVilliers, E.-M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032160 · Cited by 55
Autophagy in Multiple Sclerosis: Two Sides of the Same Coin
Misrielal, C., Mauthe, M., Reggiori, F., & Eggen, B. J. L. (2020) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.603710 · Cited by 56
The genetic architecture of the human thalamus and its overlap with ten common brain disorders
Elvsåshagen, T., Shadrin, A. A., Frei, O., van der Meer, D., Bahrami, S., Kumar, V., Smeland, O. B., Westlye, L. T., Andreassen, O. A., & Kaufmann, T. (2021) · Nature Communications · doi:10.1038/s41467-021-23175-z · Cited by 55
Epigenetics and miRNAs in the diagnosis and treatment of multiple sclerosis
Koch, M. W., Metz, L. M., & Kovalchuk, O. (2012) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2012.10.008 · Cited by 54
Interactions Between Microglia and T Cells in Multiple Sclerosis Pathobiology
Strachan-Whaley, M. R., Rivest, S., & Yong, V. W. (2014) · Journal of Interferon & Cytokine Research · doi:10.1089/jir.2014.0019 · Cited by 57
Tajuddin, S. M., Schick, U. M., Eicher, J. D., Chami, N., Giri, A., Brody, J. A., Hill, W. D., Kacprowski, T., Li, J., Lyytikäinen, L., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.003 · Cited by 56
Alemtuzumab for Multiple Sclerosis
Willis, M., & Robertson, N. P. (2016) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-016-0685-y · Cited by 54
Jelinek, G. A., Livera, A. M. D., Marck, C. H., Brown, C. R., Neate, S. L., Taylor, K. L., & Weiland, T. J. (2016) · PLoS ONE · doi:10.1371/journal.pone.0161701 · Cited by 54
Integrative analysis revealed potential causal genetic and epigenetic factors for multiple sclerosis
Mo, X., Lei, S., Qian, Q., Guo, Y., Zhang, Y., & Zhang, H. (2019) · Journal of Neurology · doi:10.1007/s00415-019-09476-w · Cited by 55
An efficient method to identify, date, and describe admixture events using haplotype informationPreprint
Wangkumhang, P., Greenfield, M., & Hellenthal, G. (2022) · Genome Research · doi:10.1101/gr.275994.121 · Cited by 55
Kendirli, A., del Val, C. D. L. R., Lämmle, K. F., Eglseer, K., Bauer, I., Kavaka, V., Winklmeier, S., Zhuo, L., Wichmann, C. W., Gerdes, L. A., et al. (2023) · Nature Neuroscience · doi:10.1038/s41593-023-01432-2 · Cited by 57
Yang, Z., Wen, J., Abdulkadir, A., Cui, Y., Erus, G., Mamourian, E., Melhem, R., Srinivasan, D., Govindarajan, S. T., Chen, J., et al. (2024) · Nature Communications · doi:10.1038/s41467-023-44271-2 · Cited by 55
Laaksonen, H., Guerreiro‐Cacais, A. O., Adzemovic, M. Z., Parsa, R., Zeitelhofer, M., Jagodic, M., & Olsson, T. P. (2014) · Genes and Immunity · doi:10.1038/gene.2014.36 · Cited by 56
IL7R gene expression network associates with human healthy ageing
Passtoors, W. M., van den Akker, E. B., Deelen, J., Maier, A. B., van der Breggen, R., Jansen, R., Trompet, S., van Heemst, D., Derhovanessian, E., Pawelec, G., et al. (2015) · Immunity & Ageing · doi:10.1186/s12979-015-0048-6 · Cited by 53
Dynamic regulation of serum aryl hydrocarbon receptor agonists in MS
Rothhammer, V., Borucki, D. M., Sánchez, M. I. G., Mazzola, M. A., Hemond, C. C., Regev, K., Paul, A., Kivisäkk, P., Bakshi, R., Izquierdo, G., et al. (2017) · Neurology Neuroimmunology & Neuroinflammation · doi:10.1212/nxi.0000000000000359 · Cited by 56
Arima, Y., Ohki, T., Nishikawa, N., Higuchi, K., Ota, M., Tanaka, Y., Nio‐Kobayashi, J., Elfeky, M., Sakai, R., Mori, Y., et al. (2017) · eLife · doi:10.7554/elife.25517 · Cited by 54
Xu, X., Han, L., Zhao, G., Xue, S., Gao, Y., Xiao, J., Zhang, S., Chen, P., Wu, Z.-Y., Ding, J., et al. (2017) · Journal of Experimental Medicine · doi:10.1084/jem.20160068 · Cited by 53
Genetics of multiple sclerosis
Baranzini, S. E., & Nickles, D. (2012) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283533a93 · Cited by 52
Byström, S., Ayoglu, B., Månberg, A., Mitsios, N., Hong, M., Drobin, K., Forsström, B., Fredolini, C., Khademi, M., Amor, S., et al. (2014) · Journal of Proteome Research · doi:10.1021/pr500609e · Cited by 52
Adzemovic, M. Z., Öckinger, J., Zeitelhofer, M., Hochmeister, S., Beyeen, A. D., Paulson, A., Gillett, A., Hedreul, M. T., Covacu, R., Lassmann, H., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0039794 · Cited by 52
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Chen, D., Ireland, S. J., Remington, G. M., Álvarez, E., Racke, M. K., Greenberg, B. M., Frohman, E. M., & Monson, N. L. (2016) · The Journal of Immunology · doi:10.4049/jimmunol.1600782 · Cited by 52
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Gusev, A., Shi, H., Kichaev, G., Pomerantz, M., Li, F., Long, H. W., Ingles, S. A., Kittles, R. A., Strom, S. S., Rybicki, B. A., et al. (2016) · Nature Communications · doi:10.1038/ncomms10979 · Cited by 51
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Klotz, L., Smolders, J., Lehto, J., Matilainen, M., Lütje, L., Buchholz, L., Albrecht, S., Walter, C., Varghese, J., Wiendl, H., et al. (2025) · Nature Medicine · doi:10.1038/s41591-025-03625-7 · Cited by 51
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Vries, R. G. D., Tomlinson, T., Kim, H. M., Krenz, C. D., Haggerty, D. K., Ryan, K. A., & Kim, S. Y. H. (2016) · PLoS ONE · doi:10.1371/journal.pone.0159113 · Cited by 51
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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
About these checks
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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