State of the Art REVIEW
14 Harley ITW, Sawalha AH. Systemic lupus erythematosus as a genetic disease. Clin Immunol 2022;236:108953. doi:10.1016/j. clim.2022.108953. 15 Ha E, Bae SC, Kim K. Recent advances in understanding the genetic basis of systemic lupus erythematosus. Semin Immunopathol 2022;44:29-46. doi:10.1007/s00281-021- 00900-w. 16 Harley JB, Alarcón-Riquelme ME, Criswell LA, et al, International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN). Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008;40:204-10. doi:10.1038/ ng.81 17 Hom G, Graham RR, Modrek B, et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008;358:900-9. doi:10.1056/NEJMoa0707865. 18 Barturen G, Babaei S, Català-Moll F, et al. Integrative Analysis Reveals a Molecular Stratification of Systemic Autoimmune Diseases. Arthritis Rheumatol 2021;73:1073-85. doi:10.1002/art.41610. 19 Niewold TB, Kelly JA, Kariuki SN, et al. IRF5 haplotypes demonstrate diverse serological associations which predict serum interferon alpha activity and explain the majority of the genetic association with systemic lupus erythematosus. Ann Rheum Dis 2012;71:463-8. doi:10.1136/annrheumdis-2011-200463. 20 Alperin JM, Ortiz-Fernández L, Sawalha AH. Monogenic lupus: a developing paradigm of disease. Front Immunol 2018;9:2496. doi:10.3389/fimmu.2018.02496. 21 Brown GJ, Cañete PF, Wang H, et al. TLR7 gain-of-function genetic variation causes human lupus. Nature 2022;605:349-56. doi:10.1038/s41586-022-04642-z. 22 Sinicato NA, de Oliveira L, Lapa A, et al. Familial aggregation of childhood and adulthood-onset systemic lupus erythematosus. Arthritis Care Res (Hoboken) 2020;72:1147-51. doi:10.1002/ acr.23931 23 Langefeld CD, Ainsworth HC, Cunninghame Graham DS, et al. Transancestral mapping and genetic load in systemic lupus erythematosus. Nat Commun 2017;8:16021. doi:10.1038/ ncomms16021. 24 Boackle SA. Advances in lupus genetics. Curr Opin Rheumatol 2013;25:561-8. doi:10.1097/BOR.0b013e328363eb4e. 25 Harley JB, Chen X, Pujato M, et al. Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity. Nat Genet 2018;50:699-707. doi:10.1038/s41588-018-0102-3. 26 James JA, Kaufman KM, Farris AD, Taylor-Albert E, Lehman TJ, Harley JB. An increased prevalence of Epstein-Barr virus infection in young patients suggests a possible etiology for systemic lupus erythematosus. J Clin Invest 1997;100:3019-26. doi:10.1172/ JCI119856. 27 Lu X, Chen X, Forney C, et al. Global discovery of lupus genetic risk variant allelic enhancer activity. Nat Commun 2021;12:1611. doi:10.1038/s41467-021-21854-5. 28 Yang S, Svensson MND, Harder NHO, et al. PTPN22 phosphorylation acts as a molecular rheostat for the inhibition of TCR signaling. Sci Signal 2020;13:eaaw8130. doi:10.1126/scisignal.aaw8130. 29 Niewold TB. Advances in lupus genetics. Curr Opin Rheumatol 2015;27:440-7. doi:10.1097/ BOR.0000000000000205. 30 Nln I, Fernandez-Ruiz R, Muskardin TLW, et al. Interferon pathway lupus risk alleles modulate risk of death from acute COVID-19. Transl Res 2022;244:47-55. doi:10.1016/j.trsl.2022.01.007. 31 Deng Y, Tsao BP. Advances in lupus genetics and epigenetics. Curr Opin Rheumatol 2014;26:482-92. doi:10.1097/ BOR.0000000000000086. 32 Hanscombe KB, Morris DL, Noble JA, et al. Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans. Hum Mol Genet 2018;27:3813-24. doi:10.1093/ hmg/ddy280. 33 Limou S, Nelson GW, Kopp JB, Winkler CA. APOL1 kidney risk alleles: population genetics and disease associations. Adv Chronic Kidney Dis 2014;21:426-33. doi:10.1053/j.ackd.2014.06.005. 34 Freedman BI, Langefeld CD, Andringa KK, et al, Lupus Nephritis–End– Stage Renal Disease Consortium. End-stage renal disease in African Americans with lupus nephritis is associated with APOL1. Arthritis Rheumatol 2014;66:390-6. doi:10.1002/art.38220. 35 Papeta N, Kiryluk K, Patel A, et al. APOL1 variants increase risk for FSGS and HIVAN but not IgA nephropathy. J Am Soc Nephrol 2011;22:1991-6. doi:10.1681/ASN.2011040434. 36 Namjou B, Kim-Howard X, Sun C, et al, Argentine Collaborative Group, BIOLUPUS and GENLES Networks. PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes. PLoS One 2013;8:e69404. doi:10.1371/ journal.pone.0069404. 37 Kottyan LC, Zoller EE, Bene J, et al, UK Primary Sjögren’s Syndrome Registry, UK Primary Sjögren’s Syndrome Registry. The IRF5-TNPO3 association with systemic lupus erythematosus has two components
Research Council of Australia, Lupus Research Alliance, AbbVie, Amgen, AstraZeneca, Biogen, BristolMyersSquibb, Eli Lilly, EMD Serono, Genentech, GSK, Janssen, and UCB; and consulting fees from AbbVie, AstraZeneca, Biogen, BristolMyersSquibb, Capella, Eli Lilly, EMD Serono, Genentech, Gilead, Novartis, and Zenas. RFR receives research funding from the Lupus Research Alliance Diversity in Lupus Research Career Development Award. AB receives research funding from the Lupus Research Alliance Diversity in Lupus Research Career Development Award and the National Institutes of Health K23AI163359; and consulting fees from GSK, Novartis, and UCB. TBN receives research funding from EMD Serono, Zenas Biopharma, NIH (AI164968, DK107984, AI167271, AR078416, AR065964), and the Lupus Research Foundation; and consulting fees from AstraZeneca, Progentec, S3 Connected Health, GSK, Thermo Fisher, Roivant Sciences, Ventus, Toran, and Inova. Funding: The funders had no role in considering the study design or in the collection, analysis, interpretation of data, writing of the report, or decision to submit the article for publication. Patient involvement: The authors have extensive networks with local, national, and international patient groups informing their perspective. EFM is a member of the Lupus Foundation of America Project ALPHA task force addressing unmet need in lupus, has published on patient perspectives in systemic lupus erythematosus, and has recruited an international patent advisory panel to direct a program to improve outcome measures for systemic lupus erythematosus trials. Patients were not directly involved in drawing up this review. Provenance and peer review: Commissioned; externally peer reviewed. 1 Barber MRW, Drenkard C, Falasinnu T, et al. Global epidemiology of systemic lupus erythematosus. Nat Rev Rheumatol 2021;17:515-32. doi:10.1038/s41584-021-00668-1. 2 Izmirly PM, Parton H, Wang L, et al. Prevalence of systemic lupus erythematosus in the United States: estimates from a meta-analysis of the centers for disease control and prevention national lupus registries. Arthritis Rheumatol 2021;73:991-6. doi:10.1002/ art.41632. 3 Izmirly PM, Ferucci ED, Somers EC, et al. Incidence rates of systemic lupus erythematosus in the USA: estimates from a meta-analysis of the Centers for Disease Control and Prevention national lupus registries. Lupus Sci Med 2021;8:e000614. doi:10.1136/ lupus-2021-000614. 4 Duarte-García A, Hocaoglu M, Valenzuela-Almada M, et al. Rising incidence and prevalence of systemic lupus erythematosus: a population-based study over four decades. Ann Rheum Dis 2022;81:1260-6. doi:10.1136/annrheumdis-2022-222276. 5 Chiu YM, Lai CH. Nationwide population-based epidemiologic study of systemic lupus erythematosus in Taiwan. Lupus 2010;19:1250-5. doi:10.1177/0961203310373780. 6 Gergianaki I, Fanouriakis A, Repa A, et al. Epidemiology and burden of systemic lupus erythematosus in a Southern European population: data from the community-based lupus registry of Crete, Greece. Ann Rheum Dis 2017;76:1992-2000. doi:10.1136/ annrheumdis-2017-211206. 7 Aringer M, Johnson SR. Systemic lupus erythematosus classification and diagnosis. Rheum Dis Clin North Am 2021;47:501-11. doi:10.1016/j.rdc.2021.04.011. 8 Hochberg MC. Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1997;40:1725. doi:10.1002/art.1780400928 9 Petri M, Orbai AM, Alarcón GS, et al. Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus. Arthritis Rheum 2012;64:2677-86. doi:10.1002/art.34473. 10 Aringer M, Costenbader K, Daikh D, et al. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus. Ann Rheum Dis 2019;78:1151-9. doi:10.1136/annrheumdis-2018-214819. 11 Barturen G, Beretta L, Cervera R, Van Vollenhoven R, Alarcón- Riquelme ME. Moving towards a molecular taxonomy of autoimmune rheumatic diseases. Nat Rev Rheumatol 2018;14:75-93. doi:10.1038/nrrheum.2017.220. 12 Block SR, Winfield JB, Lockshin MD, D’Angelo WA, Christian CL. Studies of twins with systemic lupus erythematosus. A review of the literature and presentation of 12 additional sets. Am J Med 1975;59:533-52. doi:10.1016/0002-9343(75)90261-2. 13 Kuo CF, Grainge MJ, Valdes AM, et al. Familial aggregation of systemic lupus erythematosus and coaggregation of autoimmune diseases in affected families. JAMA Intern Med 2015;175:1518-26. doi:10.1001/jamainternmed.2015.3528.
the bmj | BMJ 2023;383:073980 | doi: 10.1136/bmj-2022-073980
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