Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
Open accessAbstract
We report on the influence of ~22 million variants on 731 immune cell traits in a cohort of 3,757 Sardinians. We detected 122 significant (P < 1.28 × 10-11) independent association signals for 459 cell traits at 70 loci (53 of them novel) identifying several molecules and mechanisms involved in cell regulation. Furthermore, 53 signals at 36 loci overlapped with previously reported disease-associated signals, predominantly for autoimmune disorders, highlighting intermediate phenotypes in pathogenesis. Collectively, our findings illustrate complex genetic regulation of immune cells with highly selective effects on autoimmune disease risk at the cell-subtype level. These results identify drug-targetable pathways informing the design of more specific treatments for autoimmune diseases.
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A large-scale GWAS found a median heritability of 37% for a broad set of immune cell types and immune traits, with some phenotypes showing heritability as high as 96%.
“For example, one large-scale GWAS found a median heritability of 37% for a broad set of immune cell types and immune traits, with some phenotypes showing heritability as high as 96% (116, 117).”
From Connecting aging biology and inflammation in the omics era (2022) · cites this paper as [116]
The heritability for many serum cytokines/chemokines ranges from 50% to 90% in healthy twins between 8 and 82 years of age, with IL-6 and IL-12p40 levels being especially driven by genetics.
“The heritability for many serum cytokines/chemokines ranges from 50% to 90% in healthy twins between 8 and 82 years of age, with IL-6 and IL-12p40 levels being especially driven by genetics.”
From Connecting aging biology and inflammation in the omics era (2022) · cites this paper as [116]
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PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089 · see citing works
The MR-Base platform supports systematic causal inference across the human phenome
Hemani, G., Zheng, J., Elsworth, B., Wade, K. H., Haberland, V., Baird, D., Laurin, C., Burgess, S., Bowden, J., Langdon, R., et al. (2018) · eLife · doi:10.7554/elife.34408 · Cited by 7,959 · see citing works
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
The International IBD Genetics Consortium (IIBDGC), Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Philip Schumm, L., Sharma, Y., et al. (2012) · Nature · doi:10.1038/nature11582 · Cited by 4,722 · see citing works
Giambartolomei, C., Vukcevic, D., Schadt, E. E., Franke, L., Hingorani, A. D., Wallace, C., & Plagnol, V. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004383 · Cited by 4,261 · see citing works
Next-generation genotype imputation service and methods
Das, S., Forer, L., Schönherr, S., Sidore, C., Locke, A. E., Kwong, A., Vrieze, S. I., Chew, E. Y., Levy, S., McGue, M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3656 · Cited by 4,190 · see citing works
Self-citationLocusZoom: regional visualization of genome-wide association scan results
Pruim, R. J., Welch, R. P., Sanna, S., Teslovich, T. M., Chines, P. S., Gliedt, T. P., Boehnke, M., Abecasis, G. R., & Willer, C. J. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq419 · Cited by 2,707 · see citing works
Self-citationGenetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
The International Multiple Sclerosis Genetics Consortium & The Wellcome Trust Case Control Consortium 2 (2011) · Nature · doi:10.1038/nature10251 · Cited by 2,697 · see citing works
Liu, J. Z., van Sommeren, S., Huang, H., Ng, S. C., Alberts, R., Takahashi, A., Ripke, S., Lee, J. C., Jostins, L., Shah, T., et al. (2015) · Nature Genetics · doi:10.1038/ng.3359 · Cited by 2,603 · see citing works
Genetics of rheumatoid arthritis contributes to biology and drug discovery
the RACI consortium, Okada, Y., the GARNET consortium, Wu, D., Trynka, G., Raj, T., Terao, C., Ikari, K., Kochi, Y., Ohmura, K., et al. (2014) · Nature · doi:10.1038/nature12873 · Cited by 2,310 · see citing works
Systematic identification of trans eQTLs as putative drivers of known disease associations
Westra, H.-J., Peters, M. J., Esko, T., Yaghootkar, H., Schurmann, C., Kettunen, J., Christiansen, M. W., Fairfax, B. P., Schramm, K., Powell, J. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2756 · Cited by 1,658 · see citing works
de Lange, K. M., Moutsianas, L., Lee, J. C., Lamb, C. A., Luo, Y., Kennedy, N. A., Jostins, L., Rice, D. L., Gutierrez-Achury, J., Ji, S.-G., et al. (2017) · Nature Genetics · doi:10.1038/ng.3760 · Cited by 1,445 · see citing works
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis
International Multiple Sclerosis Genetics Consortium (IMSGC) (2013) · Nature Genetics · doi:10.1038/ng.2770 · Cited by 1,386 · see citing works
Bispecific antibodies: a mechanistic review of the pipeline
Labrijn, A. F., Janmaat, M. L., Reichert, J. M., & Parren, P. W. H. I. (2019) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0028-1 · Cited by 1,303 · see citing works
Variation in the Human Immune System Is Largely Driven by Non-Heritable Influences
Brodin, P., Jojic, V., Gao, T., Bhattacharya, S., Angel, C. J. L., Furman, D., Shen-Orr, S., Dekker, C. L., Swan, G. E., Butte, A. J., et al. (2015) · Cell · doi:10.1016/j.cell.2014.12.020 · Cited by 1,065 · see citing works
Javierre, B. M., Burren, O. S., Wilder, S. P., Kreuzhuber, R., Hill, S. M., Sewitz, S., Cairns, J., Wingett, S. W., Várnai, C., Thiecke, M. J., et al. (2016) · Cell · doi:10.1016/j.cell.2016.09.037 · Cited by 1,046 · see citing works
Bentham, J., Morris, D. L., Graham, D. S. C., Pinder, C. L., Tombleson, P., Behrens, T. W., Martin, J. J., Fairfax, B. P., Knight, J. C., Chen, L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3434 · Cited by 990 · see citing works
Han, J., Zheng, H., Cui, Y., Sun, L., Ye, D., Hu, Z. Q., Xu, J., Cai, Z., Huang, W., Zhao, G., et al. (2009) · Nature Genetics · doi:10.1038/ng.472 · Cited by 938 · see citing works
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
Petukhova, L., Duvic, M. A., Hordinsky, M. K., Norris, D. A., Price, V. H., Shimomura, Y., Kim, H., Singh, P., Lee, A., Chen, W. V., et al. (2010) · Nature · doi:10.1038/nature09114 · Cited by 828 · see citing works
Trynka, G., PreventCD Study Group, Hunt, K. A., Bockett, N. A., Romanos, J., Mistry, V., Szperl, A., Bakker, S. F., Bardella, M. T., Bhaw, L., et al. (2011) · Nature Genetics · doi:10.1038/ng.998 · Cited by 825 · see citing works
FINEMAP: efficient variable selection using summary data from genome-wide association studies
Benner, C., Spencer, C. C. A., Havulinna, A. S., Salomaa, V., Ripatti, S., & Pirinen, M. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw018 · Cited by 815 · see citing works
Gateva, V., Sandling, J. K., Hom, G., Taylor, K. E., Chung, S. A., Sun, X., Ortmann, W. A., Kosoy, R., Ferreira, R. C., Nordmark, G., et al. (2009) · Nature Genetics · doi:10.1038/ng.468 · Cited by 810 · see citing works
Dzionek, A., Sohma, Y., Nagafune, J., Cella, M., Colonna, M., Facchetti, F., Günther, G., Johnston, I., Lanzavecchia, A., Nagasaka, T., et al. (2001) · The Journal of Experimental Medicine · doi:10.1084/jem.194.12.1823 · Cited by 765 · see citing works
The International IBD Genetics Consortium (IIBDGC), Ellinghaus, D., International Genetics of Ankylosing Spondylitis Consortium (IGAS), International PSC Study Group (IPSCSG), Genetic Analysis of Psoriasis Consortium (GAPC), Psoriasis Association Genetics Extension (PAGE), Jostins, L., Spain, S. L., Cortes, A., Bethune, J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3528 · Cited by 751 · see citing works
Validating therapeutic targets through human genetics
Plenge, R. M., Scolnick, E. M., & Altshuler, D. (2013) · Nature Reviews Drug Discovery · doi:10.1038/nrd4051 · Cited by 712 · see citing works
Önengüt-Gümüşcü, S., Chen, W., Burren, O. S., Cooper, N. J., Quinlan, A. R., Mychaleckyj, J. C., Farber, E., Bonnie, J. K., Szpak, M., Schofield, E. C., et al. (2015) · Nature Genetics · doi:10.1038/ng.3245 · Cited by 675 · see citing works
Genome-wide association identifies multiple ulcerative colitis susceptibility loci
McGovern, D. P. B., Gardet, A., Törkvist, L., Goyette, P., Essers, J. B., Taylor, K. D., Neale, B. M., Ong, R. T., Lagacé, C., Li, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.549 · Cited by 654 · see citing works
High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis
Syndicate, B. I. R. A. G. A. G. S., Eyre, S., Wellcome Trust Case Control Consortium, Bowes, J., Diogo, D., Lee, A., Barton, A., Martin, P., Zhernakova, A., Stahl, E., et al. (2012) · Nature Genetics · doi:10.1038/ng.2462 · Cited by 653 · see citing works
Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology
23andMe Research Team, Ferreira, M. A., collaborators, A., BIOS consortium, Study, L. C., Vonk, J. M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J. D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3985 · Cited by 550 · see citing works
Self-citationHeritability of Cardiovascular and Personality Traits in 6,148 Sardinians
Pilia, G., Chen, W., Scuteri, A., Orrù, M., Albai, G., Dei, M., Lai, S., Usala, G., Lai, M., Loi, P., et al. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020132 · Cited by 543 · see citing works
Self-citationImmune Reconstitution after Allogeneic Hematopoietic Stem Cell Transplantation
Ogonek, J., Juric, M. K., Ghimire, S., Varanasi, P. R., Holler, E., Greinix, H., & Weissinger, E. M. (2016) · Frontiers in Immunology · doi:10.3389/fimmu.2016.00507 · Cited by 461 · see citing works
Transancestral mapping and genetic load in systemic lupus erythematosus
Langefeld, C. D., Ainsworth, H. C., Graham, D. S. C., Kelly, J. A., Comeau, M. E., Marion, M. C., Howard, T. D., Ramos, P. S., Croker, J. A., Morris, D. L., et al. (2017) · Nature Communications · doi:10.1038/ncomms16021 · Cited by 421 · see citing works
Variant of TYR and Autoimmunity Susceptibility Loci in Generalized Vitiligo
Jin, Y., Birlea, S. A., Fain, P. R., Gowan, K., Riccardi, S. L., Holland, P. J., Mailloux, C. M., Sufit, A., Hutton, S. M., Amadi‐Myers, A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908547 · Cited by 415 · see citing works
BACH2 represses effector programs to stabilize Treg-mediated immune homeostasis
Roychoudhuri, R., Hirahara, K., Mousavi, K., Clever, D. C., Klebanoff, C. A., Bonelli, M. M., Sciumè, G., Zare, H., Vahedi, G., Dema, B., et al. (2013) · Nature · doi:10.1038/nature12199 · Cited by 412 · see citing works
Boston Children's JIA Registry, Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, (CAPS), C. A. P. S., (CHARMS), C. A. R. T. M. S., German Society for Pediatric Rheumatology (GKJR), Study, J. G. E., NIAMS JIA Genetic Registry, Study, T., Cobb, J. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2614 · Cited by 397 · see citing works
The UK-PSCSC Consortium, Liu, J. Z., The International IBD Genetics Consortium, The International PSC Study Group, Hov, J. R., Folseraas, T., Ellinghaus, E., Rushbrook, S. M., Doncheva, N. T., Andreassen, O. A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2616 · Cited by 391 · see citing works
Overexpression of the Cytokine BAFF and Autoimmunity Risk
Steri, M., Orrù, V., Idda, M. L., Pitzalis, M., Pala, M., Zara, I., Sidore, C., Faà, V., Floris, M., Deiana, M., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1610528 · Cited by 382 · see citing works
Self-citationSidore, C., Busonero, F., Maschio, A., Porcu, E., Naitza, S., Żołędziewska, M., Mulas, A., Pistis, G., Steri, M., Danjou, F., et al. (2015) · Nature Genetics · doi:10.1038/ng.3368 · Cited by 376 · see citing works
Self-citationJin, Y., Andersen, G. H. L., Yorgov, D., Ferrara, T. M., Ben, S., Brownson, K. M., Holland, P. J., Birlea, S. A., Siebert, J., Hartmann, A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3680 · Cited by 348 · see citing works
A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci
Bradfield, J. P., Qu, H., Wang, K., Zhang, H., Abou‐Sleiman, P. M., Kim, C. E., Mentch, F. D., Qiu, H., Glessner, J., Thomas, K., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002293 · Cited by 338 · see citing works
Genetic Variants Regulating Immune Cell Levels in Health and Disease
Orrù, V., Steri, M., Sole, G., Sidore, C., Virdis, F., Dei, M., Lai, S., Żołędziewska, M., Busonero, F., Mulas, A., et al. (2013) · Cell · doi:10.1016/j.cell.2013.08.041 · Cited by 330 · see citing works
Self-citationPalmer, T., Sterne, J. A. C., Harbord, R. M., Lawlor, D. A., Sheehan, N. A., Meng, S., Granell, R., Smith, G. D., & Didelez, V. (2011) · American Journal of Epidemiology · doi:10.1093/aje/kwr026 · Cited by 326 · see citing works
Morris, D. L., Sheng, Y., Zhang, Y., Wang, Y., Zhu, Z., Tombleson, P., Chen, L., Graham, D. S. C., Bentham, J., Roberts, A. L., et al. (2016) · Nature Genetics · doi:10.1038/ng.3603 · Cited by 312 · see citing works
Betz, R. C., Petukhova, L., Ripke, S., Huang, H., Menelaou, A., Redler, S., Becker, T., Heilmann‐Heimbach, S., Yamany, T., Duvic, M., et al. (2015) · Nature Communications · doi:10.1038/ncomms6966 · Cited by 309 · see citing works
Patin, É., Hasan, M., Bergstedt, J., Rouilly, V., Libri, V., Urrutia, A., Alanio, C., Šćepanović, P., Hammer, C., Jönsson, F., et al. (2018) · Nature Immunology · doi:10.1038/s41590-018-0049-7 · Cited by 301 · see citing works
Roederer, M., Quaye, L., Mangino, M., Beddall, M. H., Mahnke, Y., Chattopadhyay, P., Tosi, I., Napolitano, L., Terranova Barberio, M., Menni, C., et al. (2015) · Cell · doi:10.1016/j.cell.2015.02.046 · Cited by 296 · see citing works
A genetics-led approach defines the drug target landscape of 30 immune-related traits
Fang, H., Wolf, H. D., Knezevic, B., Burnham, K. L., Osgood, J. A., Sanniti, A., Lara, A. L., Kasela, S., Cesco, S. D., Wegner, J. K., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0456-1 · Cited by 207 · see citing works
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis
Lee, Y., Kuo, H., Chang, J.-S., et al. (2012) · Nature Genetics · doi:10.1038/ng.2227 · Cited by 198 · see citing works
Differential Effects of Environmental and Genetic Factors on T and B Cell Immune Traits
Aguirre‐Gamboa, R., Joosten, I., Urbano, P. C. M., Molen, R. G. V. D., van Rijssen, E., van Cranenbroek, B., Oosting, M., Smeekens, S. P., Jaeger, M., Zorro, M. M., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.10.053 · Cited by 191 · see citing works
Next-generation anti-CD20 monoclonal antibodies in autoimmune disease treatment
Du, F. H., Mills, E. A., & Mao‐Draayer, Y. (2017) · Autoimmunity Highlights · doi:10.1007/s13317-017-0100-y · Cited by 189 · see citing works
Common Methods for Performing Mendelian Randomization
Teumer, A. (2018) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2018.00051 · Cited by 165 · see citing works
BDCA2/FcεRIγ Complex Signals through a Novel BCR-Like Pathway in Human Plasmacytoid Dendritic Cells
Cao, W., Zhang, L., Rosen, D. B., Bover, L. C., Watanabe, G., Bao, M., Lanier, L. L., & Liu, Y. (2007) · PLoS Biology · doi:10.1371/journal.pbio.0050248 · Cited by 160 · see citing works
Gottlieb, P. A., Quinlan, S. C., Krause-Steinrauf, H. J., Greenbaum, C. J., Wilson, D. M., Rodriguez, H., Schatz, D., Moran, A., Lachin, J. M., Skyler, J. S., et al. (2010) · Diabetes Care · doi:10.2337/dc09-1349 · Cited by 157 · see citing works
Seven newly identified loci for autoimmune thyroid disease
Cooper, J. D., Simmonds, M. J., Walker, N. M., Burren, O. S., Brand, O. J., Guo, H., Wallace, C., Stevens, H. E., Coleman, G., Franklyn, J. A., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds357 · Cited by 149 · see citing works
Blomberg, S., Eloranta, M., Magnusson, M., et al. (2003) · Arthritis & Rheumatism · doi:10.1002/art.11225 · Cited by 145 · see citing works
A genome-wide association study identifies six novel risk loci for primary biliary cholangitis
Qiu, F., Tang, R., Zuo, X., Shi, X., Wei, Y., Zheng, X., Dai, Y., Gong, Y., Wang, L., Xu, P., et al. (2017) · Nature Communications · doi:10.1038/ncomms14828 · Cited by 140 · see citing works
Fortune, M. D., Guo, H., Burren, O. S., Schofield, E. C., Walker, N. M., Ban, M., Sawcer, S. J., Bowes, J., Worthington, J., Barton, A. C., et al. (2015) · Nature Genetics · doi:10.1038/ng.3330 · Cited by 130 · see citing works
Self-citationChildhood adiposity and risk of type 1 diabetes: A Mendelian randomization study
Censin, J. C., Nowak, C., Cooper, N., Bergsten, P., Todd, J. A., & Fall, T. (2017) · PLoS Medicine · doi:10.1371/journal.pmed.1002362 · Cited by 116 · see citing works
Immune Reconstitution after Haploidentical Hematopoietic Stem Cell Transplantation
Chang, Y., Zhao, X., & Huang, X. (2013) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2013.11.028 · Cited by 100 · see citing works
Pistis, G., Porcu, E., Vrieze, S. I., Sidore, C., Steri, M., Danjou, F., Busonero, F., Mulas, A., Żołędziewska, M., Maschio, A., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.216 · Cited by 96 · see citing works
Self-citationGenetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
Jiang, D., Ma, X., Yu, H., Cao, G., Ding, D., Chen, H., Huang, H., Gao, Y., Wu, X., Long, X., et al. (2015) · Hepatology · doi:10.1002/hep.27794 · Cited by 92 · see citing works
Ferreira, M. A. R., Mangino, M., Brumme, C. J., Zhao, Z., Medland, S. E., Wright, M. J., Nyholt, D. R., Gordon, S. D., Campbell, M., McEvoy, B. P., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.12.008 · Cited by 88 · see citing works
Ikaros family zinc finger 1 regulates dendritic cell development and function in humans
Cytlak, U., Resteu, A., Bogaert, D., Kuehn, H. S., Altmann, T., Gennery, A. R., Jackson, G. H., Kumánovics, A., Voelkerding, K. V., Prader, S., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-02977-8 · Cited by 81 · see citing works
Kim, J., Park, S., Kim, H., & Kwok, S. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms160614158 · Cited by 69 · see citing works
Genetic-Driven Druggable Target Identification and Validation
Floris, M., Olla, S., Schlessinger, D., & Cucca, F. (2018) · Trends in Genetics · doi:10.1016/j.tig.2018.04.004 · Cited by 64 · see citing works
Self-citationPopulation- 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 48 · see citing works
Self-citationGenetic Architecture of Adaptive Immune System Identifies Key Immune Regulators
Lagou, V., Garcia‐Perez, J. E., Smets, I., Horebeek, L. V., Vandebergh, M., Chen, L., Mallants, K., Prezzemolo, T., Hilven, K., Humblet‐Baron, S., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.09.048 · Cited by 48 · see citing works
Elkind, M. M., & Hill, C. K. (1986) · International Journal of Radiation Biology and Related Studies in Physics Chemistry and Medicine · doi:10.1080/09553008614551501 · Cited by 25 · see citing works
Cutaneous Lupus Erythematosus: Current Treatment Options
Presto, J. K., & Werth, V. P. (2016) · Current Treatment Options in Rheumatology · doi:10.1007/s40674-016-0033-z · Cited by 8 · see citing works
[Pulsating exophthalmos caused by a contra-lateral carotico-cavernous fistula].
Girard, P., Allègre, G., Rougier, J., Marin, E., & Girod, M. (1966) · PubMed · Cited by 8 · see citing works
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Human immune diversity: from evolution to modernity
Liston, A., Humblet-Baron, S., Duffy, D., & Goris, A. (2021) · Nature Immunology · doi:10.1038/s41590-021-01058-1 · Cited by 187 · see citing works
Deep immune phenotyping reveals similarities between aging, Down syndrome, and autoimmunity
Lambert, K., Moo, K. G., Arnett, A., Goel, G., Hu, A., Flynn, K. J., Speake, C., Wiedeman, A. E., Gersuk, V. H., Linsley, P. S., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.abi4888 · Cited by 64 · see citing works
Zheng, S., Liu, L., Liang, K., Yan, J., Meng, D., Liu, Z., Tian, S., & Shan, Y. (2024) · Communications Biology · doi:10.1038/s42003-024-06680-x · Cited by 15 · see citing works
Yan, T., Liu, J., Liu, Y., Gu, W., Liu, J., Li, Y., Lv, R., Zhang, C., Ding, J., Zha, C., et al. (2026) · Molecular Biomedicine · doi:10.1186/s43556-026-00542-0
- Authors
- Orrù, V., Steri, M., Sidore, C., Marongiu, M., Serra, V., Olla, S., Sole, G., Lai, S., Dei, M., Mulas, A., Virdis, F., Piras, M. G., Lobina, M., Marongiu, M., Pitzalis, M., Deidda, F., Loizedda, A., Onano, S., Zoledziewska, M., Sawcer, S., Devoto, M., Gorospe, M., Abecasis, G. R., Floris, M., Pala, M., Schlessinger, D., Fiorillo, E., & Cucca, F.
- Affiliations
- Institute of Genetic and Biomedical Research (IT)
- University of Sassari (IT)
- University of Cambridge (GB)
- Children's Hospital of Philadelphia (US)
- National Institute on Aging (US)
- University of Michigan (US)
- Corresponding author
- Cucca, Francesco
- ORCID
- Orrù, Valeria
- Steri, Maristella
- Sidore, Carlo
- Marongiu, Michele
- Serra, Valentina
- Olla, Stefania
- Sole, Gabriella
- Lai, Sandra
- Dei, Mariano
- Mulas, Antonella
- Virdis, Francesca
- Piras, Maria Grazia
- Lobina, Monia
- Marongiu, Mara
- Pitzalis, Maristella
- Deidda, Francesca
- Loizedda, Annalisa
- Onano, Stefano
- Sawcer, Stephen
- Devoto, Marcella
- Gorospe, Myriam
- Abecasis, Gonçalo R.
- Floris, Matteo
- Schlessinger, David
- Fiorillo, Edoardo
- Cucca, Francesco
- Venue
- Nature Genetics
- Published
- 2020-09-14
- Volume
- 52
- Issue
- 10
- Pages
- 1036-1045
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC8517961
- OpenAlex
- W3086825014
- Cited by
- 1,246
- References
- 69
- Citations by year
- 2026: 201 · 2025: 467 · 2024: 485 · 2023: 54 · 2022: 22 · 2021: 12 · 2020: 4
- FWCI
- 13.63
- Type
- journal article
- Language
- en
- Update notices
- correction (2020-09-18)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- UnissResearch (Università degli Studi di Sassari) (submittedVersion, cc-by-nc)
- UNICA IRIS Institutional Research Information System (University of Cagliari) (submittedVersion, other-oa)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- CNR ExploRA (submittedVersion)
- Funders
- Fondazione di Sardegna (U1301.2015/AI.1157.BE, U1301.2015/AI.1157, 633964)
- European Commission (633964)
- National Institutes of Health (HHSN271201600005C)
- National Institute on Aging (Z01AG000675, HHSN271201600005C)
- National Institute on Drug Abuse (HHSN271201600005C, HHSN271201600005I)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Pathology and Forensic Medicine › Multiple Sclerosis Research Studies
- Life Sciences › Immunology and Microbiology › Immunology › T-cell and B-cell Immunology
- Keywords
- immune cell traits, autoimmune disease, genetic association signals, immune cell subtypes, endophenotypes, autoimmune disease susceptibility, Sardinian population, novel loci, cell regulation
- MeSH terms
- Autoimmune Diseases, Humans, Italy, Phenotype, Autoimmunity, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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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