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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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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 401–500 of 1,003
Jog, N. R., McClain, M. T., Heinlen, L. D., Gross, T. F., Towner, R. A., Guthridge, J. M., Axtell, R. C., Pardo, G., Harley, J. B., & James, J. A. (2019) · Journal of Autoimmunity · doi:10.1016/j.jaut.2019.102332 · Cited by 96
USP15 regulates type I interferon response and is required for pathogenesis of neuroinflammation
Torre, S., Polyak, M. J., Langlais, D., Fodil, N., Kennedy, J. M., Radovanovic, I., Berghout, J., Leiva‐Torres, G. A., Krawczyk, C. M., Ilangumaran, S., et al. (2016) · Nature Immunology · doi:10.1038/ni.3581 · Cited by 96
Epigenomic annotation of genetic variants using the Roadmap Epigenome Browser
Zhou, X., Li, D., Zhang, B., Lowdon, R. F., Rockweiler, N. B., Sears, R., Madden, P. A. F., Smirnov, I. V., Costello, J., & Wang, T. (2015) · Nature Biotechnology · doi:10.1038/nbt.3158 · Cited by 93
Claes, N., Fraussen, J., Stinissen, P., Hupperts, R., & Somers, V. A. (2015) · Frontiers in Immunology · doi:10.3389/fimmu.2015.00642 · Cited by 96
Dobson, R., & Giovannoni, G. (2013) · Journal of Neurology · doi:10.1007/s00415-012-6790-1 · Cited by 93
Genetic determination of the hypothalamic–pituitary–thyroid axis: where do we stand?
Medici, M., Visser, W. E., Visser, T. J., & Peeters, R. P. (2015) · Endocrine Reviews · doi:10.1210/er.2014-1081 · Cited by 92
Protection of Fecal Microbiota Transplantation in a Mouse Model of Multiple Sclerosis
Li, K., Wei, S., Hu, L., Yin, X., Mai, Y., Jiang, C., Peng, X., Cao, X., Huang, Z., Zhou, H., et al. (2020) · Mediators of Inflammation · doi:10.1155/2020/2058272 · Cited by 92
Bashinskaya, V. V., Кулакова, О. Г., Boyko, A. N., Favorov, A. V., & Favorova, O. O. (2015) · Human Genetics · doi:10.1007/s00439-015-1601-2 · Cited by 102
Sodium intake and multiple sclerosis activity and progression in BENEFIT
Fitzgerald, K. C., Munger, K. L., Hartung, H., Freedman, M. S., Montalbán, X., Edan, G., Wicklein, E., Radue, E. W., Kappos, L., Pohl, C., et al. (2017) · Annals of Neurology · doi:10.1002/ana.24965 · Cited by 97
Meyer, M. B., Benkusky, N. A., Kaufmann, M., Lee, S. M., Onal, M., Jones, G., & Pike, J. W. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.806901 · Cited by 95
Menegatti, S., Bianchi, E., & Rogge, L. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.00382 · Cited by 94
Yano, S., Ashida, K., Sakamoto, R., Sakaguchi, C., Ogata, M., Maruyama, K., Sakamoto, S., Ikeda, M., Ohe, K., Akasu, S., et al. (2020) · European Journal of Cancer · doi:10.1016/j.ejca.2020.02.049 · Cited by 92
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Kadowaki, A., & Quintana, F. J. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.06.002 · Cited by 95
(IWP), O. B. O. T. E. A. D. W. P. (. A. I. W. P., Alexander, T., Bondanza, A., Muraro, P. A., Greco, R., Saccardi, R., Daikeler, T. D., Kazmi, M., Hawkey, C. J., Simões, B. P., et al. (2014) · Bone Marrow Transplantation · doi:10.1038/bmt.2014.251 · Cited by 93
T cell mediated pathogenesis in EAE: Molecular mechanisms
Kurschus, F. C. (2015) · Biomedical Journal · doi:10.4103/2319-4170.155590 · Cited by 95
Steele, N. Z. R., Carr, J. S., Bonham, L. W., Geier, E. G., Damotte, V., Miller, Z. A., Desikan, R. S., Boehme, K. L., Mukherjee, S., Crane, P. K., et al. (2017) · PLOS Medicine · doi:10.1371/journal.pmed.1002272 · Cited by 91
Giussani, P., Prinetti, A., & Tringali, C. (2021) · Journal of Neurochemistry · doi:10.1111/jnc.15133 · Cited by 91
Caballero, M., Seidman, D. N., Qiao, Y., Sannerud, J., Dyer, T. D., Lehman, D. M., Curran, J. E., Duggirala, R., Blangero, J., Carmi, S., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1007979 · Cited by 92
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Maretzke, F., Bechthold, A., Egert, S., Ernst, J. B., van Lent, D. M., Pilz, S., Reichrath, J., Stangl, G. I., Stehle, P., Volkert, D., et al. (2020) · Nutrients · doi:10.3390/nu12040969 · Cited by 92
Th17 cells in central nervous system autoimmunity
Sie, C., Korn, T., & Mitsdoerffer, M. (2014) · Experimental Neurology · doi:10.1016/j.expneurol.2014.03.009 · Cited by 95
Electrophile Signaling and Emerging Immuno- and Neuro-modulatory Electrophilic Pharmaceuticals
Poganik, J. R., & Aye, Y. (2020) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2020.00001 · Cited by 91
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Lutz‐Nicoladoni, C., Wolf, D. G. F., & Sopper, S. (2015) · Frontiers in Oncology · doi:10.3389/fonc.2015.00058 · Cited by 93
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Goris, A., & Liston, A. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a007260 · Cited by 96
Genome‐wide association studies of multiple sclerosis
Cotsapas, C., & Mitrovic, M. (2018) · Clinical & Translational Immunology · doi:10.1002/cti2.1018 · Cited by 89
Kofler, D. M., Severson, C., Mousissian, N., Jager, P. L. D., & Hafler, D. A. (2011) · The Journal of Immunology · doi:10.4049/jimmunol.1100626 · Cited by 89
The meninges: new therapeutic targets for multiple sclerosis
Russi, A. E., & Brown, M. A. (2014) · Translational research · doi:10.1016/j.trsl.2014.08.005 · Cited by 90
Association of HLA Genetic Risk Burden With Disease Phenotypes in Multiple Sclerosis
Isobe, N., Keshavan, A., Gourraud, P., Zhu, A. H., Datta, E., Schlaeger, R., Caillier, S. J., Santaniello, A., Lizée, A., Himmelstein, D. S., et al. (2016) · JAMA Neurology · doi:10.1001/jamaneurol.2016.0980 · Cited by 96
Progress in understanding the pathophysiology of multiple sclerosis
Zéphir, H. (2018) · Revue Neurologique · doi:10.1016/j.neurol.2018.03.006 · Cited by 97
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Sollid, L. M., Pos, W., & Wucherpfennig, K. W. (2014) · Current Opinion in Immunology · doi:10.1016/j.coi.2014.08.005 · Cited by 88
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Berry, D. J., Vimaleswaran, K. S., Whittaker, J. C., Hingorani, A. D., & Hyppönen, E. (2012) · PLoS ONE · doi:10.1371/journal.pone.0037465 · Cited by 88
R4 Regulator of G Protein Signaling (RGS) Proteins in Inflammation and Immunity
Xie, Z., Chan, E. C., & Druey, K. M. (2015) · The AAPS Journal · doi:10.1208/s12248-015-9847-0 · Cited by 88
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Zhang, G., Lin, X., Zhang, S., Xiu, H., Pan, C., & Cui, W. (2017) · Mediators of Inflammation · doi:10.1155/2017/3578702 · Cited by 90
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Schneider‐Hohendorf, T., Gerdes, L. A., Pignolet, B., Gittelman, R. M., Ostkamp, P., Rubelt, F., Raposo, C., Tackenberg, B., Riepenhausen, M., Janoschka, C., et al. (2022) · The Journal of Experimental Medicine · doi:10.1084/jem.20220650 · Cited by 87
Pathogenic CD8 T Cells in Multiple Sclerosis and Its Experimental Models
Huseby, E. S., Huseby, P. G., Shah, S., Smith, R. L., & Stadinski, B. D. (2012) · Frontiers in Immunology · doi:10.3389/fimmu.2012.00064 · Cited by 87
Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies
George, M. F., Briggs, F. B. S., Shao, X., Gianfrancesco, M. A., Kockum, I., Harbo, H. F., Celius, E. G., Bos, S. D., Hedström, A., Shen, L., et al. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000087 · Cited by 86
Genomics implicates adaptive and innate immunity in Alzheimer’s and Parkinson’s diseases
Gagliano, S. A., Pouget, J. G., Hardy, J., Knight, J., Barnes, M. R., Ryten, M., & Weale, M. E. (2016) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.369 · Cited by 85
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Luessi, F., Siffrin, V., & Zipp, F. (2012) · Expert Review of Neurotherapeutics · doi:10.1586/ern.12.59 · Cited by 88
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Ingelfinger, F., Gerdes, L. A., Kavaka, V., Krishnarajah, S., Friebel, E., Galli, E., Zwicky, P., Furrer, R., Peukert, C., Dutertre, C., et al. (2022) · Nature · doi:10.1038/s41586-022-04419-4 · Cited by 88
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Tafti, M., Lammers, G. J., Dauvilliers, Y. A., Overeem, S., Mayer, G., Nowak, J., Pfister, C., Dubois, V., Eliaou, J., Eberhard, H., et al. (2016) · SLEEP · doi:10.5665/sleep.5532 · Cited by 84
Stringer, S., Wray, N. R., Kahn, R. S., & Derks, E. M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0027964 · Cited by 84
Tizaoui, K., Kaabachi, W., Hamzaoui, A., & Hamzaoui, K. (2014) · Cellular and Molecular Immunology · doi:10.1038/cmi.2014.47 · Cited by 84
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Christensen, J. R., Börnsen, L. S., Hesse, D., Krakauer, M., Sørensen, P. S., Søndergaard, H. B., & Sellebjerg, F. T. (2012) · Journal of Neuroinflammation · doi:10.1186/1742-2094-9-215 · Cited by 86
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Kaur, G., Trowsdale, J., & Fugger, L. H. (2012) · Brain · doi:10.1093/brain/aws159 · Cited by 89
MYC and HIF in shaping immune response and immune metabolism
Gnanaprakasam, J. R., Sherman, J. W., & Wang, R. (2017) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2017.03.004 · Cited by 84
Interaction between passive smoking and two HLA genes with regard to multiple sclerosis risk
Hedström, A. K., Bomfim, I. L., Barcellos, L. F., Briggs, F. B. S., Schaefer, C. A., Kockum, I. S., Olsson, T. P., & Alfredsson, L. S. (2014) · International Journal of Epidemiology · doi:10.1093/ije/dyu195 · Cited by 92
HLA alleles modulate EBV viral load in multiple sclerosis
Agostini, S., Mancuso, R., Guerini, F. R., D’Alfonso, S., Agliardi, C., Hernis, A., Zanzottera, M., Barizzone, N., Leone, M. A., Caputo, D., et al. (2018) · Journal of Translational Medicine · doi:10.1186/s12967-018-1450-6 · Cited by 83
Cotsapas, C. J., Mitrovič, M., & Hafler, D. A. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64076-5.00046-6 · Cited by 88
Horáková, D., Zivadinov, R., Weinstock‐Guttman, B., Havrdová, E., Qu, J., Tamaño‐Blanco, M., Badgett, D., Týblová, M., Bergsland, N., Hussein, S. M., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0053996 · Cited by 83
Anderson, A. G., Rogers, B. B., Loupe, J. M., Rodriguez-Nunez, I., Roberts, S. C., White, L. M., Brazell, J. N., Bunney, W. E., Bunney, B. G., Watson, S. J., et al. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100263 · Cited by 82
Commensal gut flora and brain autoimmunity: a love or hate affair?
Berer, K., & Krishnamoorthy, G. (2012) · Acta Neuropathologica · doi:10.1007/s00401-012-0949-9 · Cited by 82
Update in vitamin D and multiple sclerosis
Alharbi, F. M. (2015) · Neurosciences · doi:10.17712/nsj.2015.4.20150357 · Cited by 82
Seidman, D. N., Shenoy, S. A., Kim, M., Babu, R. K., Woods, I. G., Dyer, T. D., Lehman, D. M., Curran, J. E., Duggirala, R., Blangero, J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.02.012 · Cited by 85
Ingwersen, J., Menge, T., Wingerath, B., Kaya, D., Graf, J., Prozorovski, T., Keller, A., Backes, C., Beier, M., Scheffler, M., et al. (2014) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.152 · Cited by 82
Alvarez‐Navarro, C., & de Castro, J. A. Ł. (2013) · Molecular Immunology · doi:10.1016/j.molimm.2013.06.012 · Cited by 82
Mishra, M. K., Wang, J., Silva, C., Mack, M., & Yong, V. W. (2012) · American Journal Of Pathology · doi:10.1016/j.ajpath.2012.05.011 · Cited by 83
Jelinek, G. A., Hadgkiss, E. J., Weiland, T. J., Pereira, N. G., Marck, C. H., & van der Meer, D. M. (2013) · International Journal of Neuroscience · doi:10.3109/00207454.2013.803104 · Cited by 82
Sex chromosome contributions to sex differences in multiple sclerosis susceptibility and progression
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Keller, C. W., Sina, C., Kotur, M. B., Ramelli, G., Mundt, S., Quast, I., Ligeon, L.-A., Weber, P., Becher, B., Münz, C., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1713664114 · Cited by 81
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Bashford-Rogers, R. J. M., Smith, K. G. C., & Thomas, D. (2018) · Immunology · doi:10.1111/imm.12927 · Cited by 86
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Scazzone, C., Agnello, L., Bivona, G., Sasso, B. L., & Ciaccio, M. (2020) · Biochemical Genetics · doi:10.1007/s10528-020-10010-1 · Cited by 81
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Salzer, J., Hallmans, G., Nystrom, M. L., Stenlund, H. C., Wadell, G., & Sundström, P. (2012) · Multiple Sclerosis Journal · doi:10.1177/1352458512470862 · Cited by 81
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Weissert, R. (2013) · Journal of Neuroimmune Pharmacology · doi:10.1007/s11481-013-9467-3 · Cited by 81
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Burren, O. S., Rubio García, A., Javierre, B.-M., Rainbow, D. B., Cairns, J., Cooper, N. J., Lambourne, J. J., Schofield, E., Castro Dopico, X., Ferreira, R. C., et al. (2017) · Genome Biology · doi:10.1186/s13059-017-1285-0 · Cited by 80
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Payer, L. M., Steranka, J. P., Ardeljan, D., Walker, J., Fitzgerald, K. C., Calabresi, P. A., Cooper, T. A., & Burns, K. H. (2018) · Nucleic Acids Research · doi:10.1093/nar/gky1086 · Cited by 84
Hedström, A. K., Huang, J., Michel, A., Butt, J., Brenner, N., Hillert, J. A., Waterboer, T., Kockum, I. S., Olsson, T. P., & Alfredsson, L. S. (2020) · Frontiers in Neurology · doi:10.3389/fneur.2019.01368 · Cited by 80
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Miyadera, H., Ohashi, J., Lernmark, Å., Kitamura, T., & Tokunaga, K. (2014) · Journal of Clinical Investigation · doi:10.1172/jci74961 · Cited by 86
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Hussman, J. P., Beecham, A. H., Schmidt, M. A., Martin, E. R., McCauley, J. L., Vance, J. M., Haines, J. L., & Pericak‐Vance, M. A. (2016) · Genes and Immunity · doi:10.1038/gene.2016.23 · Cited by 80
Massey, J. C., Sutton, I. J., Ma, D. D. F., & Moore, J. J. (2018) · Frontiers in Immunology · doi:10.3389/fimmu.2018.00410 · Cited by 81
Baird, D. A., Liu, J. Z., Zheng, J., Sieberts, S. K., Perumal, T. M., Elsworth, B., Richardson, T. G., Chen, C., Carrasquillo, M. M., Allen, M., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009224 · Cited by 80
Lopez, J. A., Denkova, M., Ramanathan, S., Dale, R. C., & Brilot, F. (2021) · Clinical & Translational Immunology · doi:10.1002/cti2.1316 · Cited by 79
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Adzemovic, M. Z., Zeitelhofer, M., Hochmeister, S., Gustafsson, S. A., & Jagodic, M. (2013) · Experimental Neurology · doi:10.1016/j.expneurol.2013.08.002 · Cited by 79
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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
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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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