References
- Sakane T, Takeno M, Suzuki N, Inaba G. Behçet's disease. N Engl J Med. 1999;341(17):1284–1291. doi:https://doi.org/10.1056/NEJM199910213411707.
- Hatemi G, Silman A, Bang D, et al. EULAR recommendations for the management of Behçet disease. Ann Rheum Dis. 2008;67(12):1656–1662. doi:https://doi.org/10.1136/ard.2007.080432.
- Verity D, Marr J, Ohno S, Wallace G, Stanford M. Behçet's disease, the Silk Road and HLA-B51: historical and geographical perspectives. Tissue Antigens. 1999;54(3):213–220. doi:https://doi.org/10.1034/j.1399-0039.1999.540301.x.
- Song GG, Kim J-H, Lee YH. Associations between the major histocompatibility complex class I chain-related gene A transmembrane (MICA-TM) polymorphism and susceptibility to psoriasis and psoriatic arthritis: a meta-analysis. Rheumatol Int. 2014;34(1):117–123. doi:https://doi.org/10.1007/s00296-013-2849-2.
- Takeuchi M, Kastner DL, Remmers EF. The immunogenetics of Behcet's disease: a comprehensive review. Journal of Autoimmunity. 2015;64:137–148. doi:https://doi.org/10.1016/j.jaut.2015.08.013.
- Hatemi G, Seyahi E, Fresko I, Talarico R, Hamuryudan V. One year in review 2017: Behçet’s syndrome. Clinical and Experimental Rheumatology. 2017;35(Suppl 108):S3–S15.
- Hatemi G, Yazici Y, Yazici H. Behçet's syndrome. Rheum Dis Clin North Am. 2013;39(2):245–261. doi:https://doi.org/10.1016/j.rdc.2013.02.010.
- Azizlerli G, Akdağ Köse A, Sarıca R, et al. Prevalence of Behçet's disease in Istanbul, Turkey. Int J Dermatol. 2003;42(10):803–806. doi:https://doi.org/10.1046/j.1365-4362.2003.01893.x.
- Yurdakul S, Günaydin I, Tüzün Y, et al. The prevalence of Behcet's syndrome in a rural area in northern Turkey. J Rheumatol. 1988;15(5):820–822.
- Idil A, Gürler A, Boyvat A, et al. The prevalence of Behçet's disease above the age of 10 years. The results of a pilot study conducted at the Park Primary Health Care Center in Ankara, Turkey. Ophthalmic Epidemiol. 2002;9(5):325–331. doi:https://doi.org/10.1076/opep.9.5.325.10338.
- Davatchi F, Chams-Davatchi C, Shams H, et al. Behcet's disease: epidemiology, clinical manifestations, and diagnosis. Expert Rev Clin Immunol. 2017;13(1):57–65. doi:https://doi.org/10.1080/1744666X.2016.1205486.
- Piga M, Mathieu A. Genetic susceptibility to Behcet's disease: role of genes belonging to the MHC region. Rheumatology (Oxford)). 2011;50(2):299–310. doi:https://doi.org/10.1093/rheumatology/keq331.
- Calamia KT, Wilson FC, Icen M, Crowson CS, Gabriel SE, Kremers HM. Epidemiology and clinical characteristics of Behçet's disease in the US: a population-based study. Arthritis Rheum. 2009;61(5):600–604. doi:https://doi.org/10.1002/art.24423.
- Ndiaye M, Sow AS, Valiollah A, et al. Behçet's disease in black skin. A retrospective study of 50 cases in Dakar. J Dermatol Case Rep. 2015;9(4):98. doi:https://doi.org/10.3315/jdcr.2015.1213.
- Yazici Y, Yurdakul S, Yazici H. Behçet's syndrome. Curr Rheumatol Rep. 2010;12(6):429–435. doi:https://doi.org/10.1007/s11926-010-0132-z.
- Yurdakul S, Yazici H. Behçet's syndrome. Best Pract Res Clin Rheumatol. 2008;22(5):793–809. doi:https://doi.org/10.1016/j.berh.2008.08.005.
- Papoutsis N, Abdel-Naser M, Altenburg A, et al. Prevalence of Adamantiades-Behçet's disease in Germany and the municipality of Berlin: results of a nationwide survey. Clinical and Experimental Rheumatology. 2006;24(5 Suppl 42):S125.
- Mahr A, Belarbi L, Wechsler B, et al. Population‐based prevalence study of Behcet's disease: differences by ethnic origin and low variation by age at immigration. Arthritis Rheum. 2008;58(12):3951–3959. doi:https://doi.org/10.1002/art.24149.
- Koné-Paut I, Geisler I, Wechsler B, et al. Familial aggregation in Behçet’s disease: high frequency in siblings and parents of pediatric probands. J Pediatr. 1999;135(1):89–93. doi:https://doi.org/10.1016/S0022-3476(99)70333-1.
- Fietta P. Behcet's disease: familial clustering and immunogenetics. Clin Exp Rheumatol. 2005;23(4):S.
- Zouboulis CC. Epidemiology of Adamantiades-Behçet's disease. Annales de Medecine Interne. 1999;150(6):488–498.
- Akpolat T, Koç Y, Yeniay I, et al. Familial Behçet's disease. The European Journal of Medicine. 1992;1(7):391–395.
- Zouboulis CC, Kötter I, Djawari D, et al. Epidemiological features of Adamantiades-Behçet's disease in Germany and in. Yonsei Med J. 1997;38(6):411–422. doi:https://doi.org/10.3349/ymj.1997.38.6.411.
- Shahram F, Chams C, Davatchi F, Dadji A, Akbarian M, Jamshidi A. Familial study in Behcet's Disease, analysis of 1242 patients. In: Behcet's Disease. Seoul: Design Mecca Publishing; 2000:605–608.
- Molinari N, Paut IK, Manna R, Demaille J, Daures J, Touitou I. Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis. Am J Med Genet A. 2003;122A (2):115–118. doi:https://doi.org/10.1002/ajmg.a.20136.
- Stewart JB. Genetic analysis of families of patients with Behçet's syndrome: data incompatible with autosomal recessive inheritance. Ann Rheum Dis. 1986;45(4):265–268.
- Gül A, Inanç M, Öcal L, Aral O, Koniçe M. Familial aggregation of Behçet's disease in Turkey. Ann Rheum Dis. 2000;59(8):622–625. doi:https://doi.org/10.1136/ard.59.8.622.
- Gul A, Ohno S. HLA-B*51 and Behçet disease . Ocul Immunol Inflamm. 2012;20(1):37–43. doi:https://doi.org/10.3109/09273948.2011.634978.
- Gul A. Behcet's disease: an update on the pathogenesis. Clin Exp Rheumatol. 2001;19(5):S-6.
- Hirohata S, Oka H, Mizushima Y. Streptococcal-related antigens stimulate production of IL6 and interferon-γ by T cells from patients with Behçet's disease. Cell Immunol. 1992;140(2):410–419. doi:https://doi.org/10.1016/0008-8749(92)90207-6.
- Kaneko F, Oyama N, Yanagihori H, Isogai E, Yokota K, Oguma K. The role of streptococcal hypersensitivity in the pathogenesis of Behçet's disease. Eur J Dermatol. 2008;18(5):489–498. doi:https://doi.org/10.1684/ejd.2008.0484.
- Dalghous A, Freysdottir J, Fortune F. Expression of cytokines, chemokines, and chemokine receptors in oral ulcers of patients with Behcet's disease (BD) and recurrent aphthous stomatitis is Th1-associated, although Th2-association is also observed in patients with BD . Scand J Rheumatol. 2006;35(6):472–475. doi:https://doi.org/10.1080/03009740600905380.
- Frassanito MA, Dammacco R, Cafforio P, Dammacco F. Th1 polarization of the immune response in Behçet's disease: A putative pathogenetic role of interleukin‐12. Arthritis Rheumatol. 1999;42(9):1967–1974. doi:https://doi.org/10.1002/1529-0131(199909)42:9<1967::AID-ANR24>3.0.CO;2-Z.
- Raziuddin S, Al-Dalaan A, Bahabri S, Siraj A, Al-Sedairy S. Divergent cytokine production profile in Behcet's disease. Altered Th1/Th2 cell cytokine pattern. J Rheumatol. 1998;25(2):329–333.
- Sahin S, Akoglu T, Direskeneli H, Sen LS, Lawrence R. Neutrophil adhesion to endothelial cells and factors affecting adhesion in patients with Behçet's disease. Ann Rheum Dis. 1996;55(2):128–133. doi:https://doi.org/10.1136/ard.55.2.128.
- Musabak U, Pay S, Erdem H, et al. Serum interleukin-18 levels in patients with Behçet's disease. Is its expression associated with disease activity or clinical presentations? Rheumatol Int. 2006;26(6):545–550. doi:https://doi.org/10.1007/s00296-005-0029-8.
- Pay S, Musabak U, Simşek I, et al. Expression of CXCR-1 and CXCR-2 chemokine receptors on synovial neutrophils in inflammatory arthritides: Does persistent or increasing expression of CXCR-2 contribute to the chronic inflammation or erosive changes? Joint Bone Spine. 2006;73(6):691–696. doi:https://doi.org/10.1016/j.jbspin.2006.01.023.
- Atagunduz P, Ergun T, Direskeneli H. MEFV mutations are increased in Behçet's disease (BD) and are associated with vascular involvement. Clin Exp Rheumatol. 2003;21(4 Suppl 30):S35–S7.
- Ohno S, Aoki K, Sugiura S, Nakayama E, Itakura K, Aizawa M. HL-A5 and Behcet's disease. Lancet. 1973;302(7842):1383–1384. doi:https://doi.org/10.1016/S0140-6736(73)93343-6.
- Mizuki N, Inoko H, Ando H, et al. Behçet's disease associated with one of the HLA-B51 subantigens, HLA-B* 5101. Am J Ophthalmol. 1993;116(4):406–409. doi:https://doi.org/10.1016/S0002-9394(14)71396-0.
- Mizuki N, Inoko H, Ohno S. Molecular Genetics (HLA) of Behçet’s Disease. Heidelberg, Berlin: Springer; 2001:87–100.
- Mizuki N, Inoko H, Ohno S. Pathogenic gene responsible for the predisposition to Behçet's disease. Int Rev Immunol. 1997;14(1):33–48. doi:https://doi.org/10.3109/08830189709116843.
- Mizukl N, Ohno S, Ando H, et al. A strong association between HLA‐B* 5101 and Behçet's disease in Greek patients. Tissue Antigens. 1997;50(1):57–60.
- Rodríguez M, Walter K, Sanchez‐Roman J, Garcfa‐Lozano J, Núñez‐Roldán A. Association of HLA‐B 51 subtypes and Behcet's disease in Spain. Tissue Antigens. 1998;52(1):78–80.
- Koumantaki Y, Stavropoulos C, Spyropoulou M, et al. HLA-B∗ 5101 in Greek patients with Behcet’s disease. Hum Immunol. 1998;59(4):250–255. doi:https://doi.org/10.1016/S0198-8859(98)00011-1.
- Kera J, Mizuki N, Ota M, et al. Significant associations of HLA-B*5101 and B*5108, and lack of association of class II alleles with Behçet's disease in Italian patients . Tissue Antigens. 1999;54(6):565–571. doi:https://doi.org/10.1034/j.1399-0039.1999.540605.x.
- Mizuki N, Ota M, Katsuyama Y, et al. Association analysis between the MIC‐A and HLA–B alleles in Japanese patients with Behçet's disease. Arthritis Rheumatol. 1999;42(9):1961–1966. doi:https://doi.org/10.1002/1529-0131(199909)42:9<1961::AID-ANR23>3.0.CO;2-7.
- Verity D, Wallace G, Vaughan R, et al. HLA and tumour necrosis factor (TNF) polymorphisms in ocular Behçet's disease. Tissue Antigens. 1999;54(3):264–272. doi:https://doi.org/10.1034/j.1399-0039.1999.540307.x.
- Yabuki K, Mizuki N, Ota M, et al. Association of MICA gene and HLA-B* 5101 with Behcet’s disease in Greece. Invest Ophthalmol Vis Sci. 1999;40(9):1921–1926.
- Yabuki K, Ohno S, Mizuki N, et al. HLA class I and II typing of the patients with Behçet’s disease in Saudi Arabia. Tissue Antigens. 1999;54(3):273–277.
- Kötter I, Günaydin I, Stübiger N, et al. Comparative analysis of the association of HLA‐B* 51 suballeles with Behçet’s disease in patients of German and Turkish origin. Tissue Antigens. 2001;58(3):166–170.
- Mizuki N, Ota M, Katsuyama Y, et al. HLA‐B* 51 allele analysis by the PCR‐SBT method and a strong association of HLA‐B* 5101 with Japanese patients with Behçet’s disease. Tissue Antigens. 2001;58(3):181–184.
- Mizuki N, Ota M, Katsuyama Y, et al. HLA class I genotyping including HLA‐B* 51 allele typing in the Iranian patients with Behçet’s disease. Tissue Antigens. 2001;57(5):457–462.
- Mizuki N, Yabuki K, Ota M, et al. Microsatellite mapping of a susceptible locus within the HLA region for Behçet's disease using Jordanian patients. Hum Immunol. 2001;62(2):186–190. doi:https://doi.org/10.1016/s0198-8859(00)00246-9.
- Paul M, Klein T, Krause I, Molad Y, Narinsky R, Weinberger A. Allelic distribution of HLA‐B* 5 in HLA‐B5‐positive Israeli patients with Behçet’s disease. Tissue Antigens. 2001;58(3):185–186.
- Pirim I, Atasoy M, Ikbal M, Erdem T, Aliagaoglu C. HLA class I and class II genotyping in patients with Behcet's disease: a regional study of eastern part of Turkey. Tissue Antigens. 2004;64(3):293–297.
- Mohammad-Ebrahim H, Kamali-Sarvestani E, Mahmoudi M, et al. Association of killer cell immunoglobulin-like receptor (KIR) genes and their HLA ligands with susceptibility to Behçet’s disease. Scand J Rheumatol. 2018;47(2):155–163. doi:https://doi.org/10.1080/03009742.2017.1340510.
- Takemoto Y, Naruse T, Namba K, et al. Re-evaluation of heterogeneity in HLA-B*510101 associated with Behçet's disease . Tissue Antigens. 2008;72(4):347–353. doi:https://doi.org/10.1111/j.1399-0039.2008.01111.x.
- Gumperz JE, Litwin V, Phillips JH, Lanier LL, Parham P. The Bw4 public epitope of HLA-B molecules confers reactivity with natural killer cell clones that express NKB1, a putative HLA receptor. J Exp Med. 1995;181(3):1133–1144. doi:https://doi.org/10.1084/jem.181.3.1133.
- Petrushkin H, Hasan M, Stanford MR, Fortune F, Wallace GR. Behçet's disease: do natural killer cells play a significant role? Front Immunol. 2015;6:134. doi:https://doi.org/10.3389/fimmu.2015.00134.
- de Menthon M, LaValley MP, Maldini C, Guillevin L, Mahr A. HLA-B51/B5 and the risk of Behçet's disease: a systematic review and meta-analysis of case-control genetic association studies . Arthritis Rheum. 2009;61(10):1287–1296. doi:https://doi.org/10.1002/art.24642.
- Gül A, Hajeer AH, Worthington J, Barrett JH, Ollier WE, Silman AJ. Evidence for linkage of the HLA–B locus in Behçet's disease, obtained using the transmission disequilibrium test. Arthritis Rheumatol. 2001;44(1):239–241.
- Meguro A, Inoko H, Ota M, et al. Genetics of Behçet’s disease inside and outside the MHC. Ann Rheum Dis. 2010;69(4):747–754. doi:https://doi.org/10.1136/ard.2009.108571.
- Ombrello MJ, Kirino Y, de Bakker PIW, Gul A, Kastner DL, Remmers EF. Behcet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity. Proc Nat Acad Sci. 2014;111(24):8867–8872. doi:https://doi.org/10.1073/pnas.1406575111.
- Hughes T, Coit P, Adler A, et al. Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease. Nat Genet. 2013;45(3):319–324. doi:https://doi.org/10.1038/ng.2551.
- Gül A. Genetics of Behçet's disease: lessons learned from genomewide association studies. Curr Opin Rheumatol. 2014;26(1):56–63. doi:https://doi.org/10.1097/BOR.0000000000000003.
- Montes-Cano MA, Conde-Jaldón M, García-Lozano JR, et al. HLA and non-HLA genes in Behçet's disease: a multicentric study in the Spanish population. Arthritis Res Ther. 2013;15(5):R145. doi:https://doi.org/10.1186/ar4328.
- Ortiz-Fernández L, Carmona F-D, Montes-Cano M-A, et al. Genetic analysis with the immunochip platform in Behçet disease. Identification of residues associated in the HLA class I region and new susceptibility loci. PloS One. 2016;11(8):e0161305. doi:https://doi.org/10.1371/journal.pone.0161305.
- Maldini C, LaValley MP, Cheminant M, de Menthon M, Mahr A. Relationships of HLA-B51 or B5 genotype with Behcet's disease clinical characteristics: systematic review and meta-analyses of observational studies. Rheumatology (Oxford)). 2012;51(5):887–900. doi:https://doi.org/10.1093/rheumatology/ker428.
- Xavier JM, Davatchi F, Abade O, et al. Characterization of the major histocompatibility complex locus association with Behçet's disease in Iran. Arthritis Res Ther. 2015;17(1):81. doi:https://doi.org/10.1186/s13075-015-0585-6.
- Kang EH, Park JW, Park C, et al. Genetic and non-genetic factors affecting the visual outcome of ocular Behçet’s disease. Hum Immunol. 2013;74(10):1363–1367. doi:https://doi.org/10.1016/j.humimm.2013.06.036.
- Elfishawi MM, Elgengehy F, Mossallam G, et al. HLA Class I in Egyptian patients with Behçet's disease: new association with susceptibility, protection, presentation and severity of manifestations. Immunol Invest. 2019;48(2):121–129. doi:https://doi.org/10.1080/08820139.2018.1517364.
- Louthrenoo W, Kasitanon N, Pathanapitoon K, et al. Contribution of HLA-B*51:01 and -A*26:01 to Behçet's disease and their clinical association in Thai patients. Int J Rheum Dis. 2020;23(2):247–255. doi:https://doi.org/10.1111/1756-185X.13785.
- Kang EH, Kim JY, Takeuchi F, et al. Associations between the HLA-A polymorphism and the clinical manifestations of Behcet's disease. Arthritis Res Ther. 2011;13(2):R49. doi:https://doi.org/10.1186/ar3292.
- Kaburaki T, Takamoto M, Numaga J, et al. Genetic association of HLA-A* 2601 with ocular Behçet's disease in Japanese patients. Clin Exp Rheumatol. 2010;28(4 Suppl 60):S39–S44.
- Takeuchi M, Mizuki N, Meguro A, et al. Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility. Nat Genet. 2017;49(3):438–443. doi:https://doi.org/10.1038/ng.3786.
- Talaat RM, Ashour ME, Bassyouni IH, Raouf AA. Polymorphisms of interleukin 6 and interleukin 10 in Egyptian people with Behcet's disease. Immunobiology. 2014;219(8):573–582. doi:https://doi.org/10.1016/j.imbio.2014.03.004.
- Afkari B, Babaloo Z, Dolati S, et al. Molecular analysis of interleukin-10 gene polymorphisms in patients with Behçet's disease. Immunol Lett. 2018;194:56–61. doi:https://doi.org/10.1016/j.imlet.2017.12.008.
- Wu Z, Zheng W, Xu J, et al. IL10 polymorphisms associated with Behçet's disease in Chinese Han. Hum Immunol. 2014;75(3):271–276. doi:https://doi.org/10.1016/j.humimm.2013.11.009.
- Xavier JM, Shahram F, Davatchi F, et al. Association study of IL10 and IL23R-IL12RB2 in Iranian patients with Behçet's disease. Arthritis Rheum. 2012;64(8):2761–2772. doi:https://doi.org/10.1002/art.34437.
- Amirzargar A, Shahram F, Nikoopour E, et al. Proinflammatory cytokine gene polymorphisms in Behcet's disease. Eur Cytokine Network. 2010;21(4):292–296.
- Mizuki N, Meguro A, Ota M, et al. Genome-wide association studies identify IL23R-IL12RB2 and IL10 as Behçet's disease susceptibility loci. Nat Genet. 2010;42(8):703–706. doi:https://doi.org/10.1038/ng.624.
- Kang EH, Kim S, Park MY, et al. Behçet's disease risk association fine-mapped on the IL23R-IL12RB2 intergenic region in Koreans. Arthritis Res Ther. 2017;19(1):227 doi:https://doi.org/10.1186/s13075-017-1435-5.
- Kirino Y, Bertsias G, Ishigatsubo Y, et al. Genome-wide association analysis identifies new susceptibility loci for Behcet's disease and epistasis between HLA-B* 51 and ERAP1. Nat Genet. 2013;45(2):202–207. doi:https://doi.org/10.1038/ng.2520.
- Kappen JH, Medina-Gomez C, van Hagen PM, et al. Genome-wide association study in an admixed case series reveals IL12A as a new candidate in Behçet disease. PloS One. 2015;10(3):e0119085. doi:https://doi.org/10.1371/journal.pone.0119085.
- Dehghanzadeh R, Babaloo Z, Sakhinia E, et al. IL-27 Gene Polymorphisms in Iranian Patients with Behcet's Disease. Clin Lab. 2016;62(5):855–861. doi:https://doi.org/10.7754/clin.lab.2015.150843.
- Badawy A, Mohamed AH, Enein AA, et al. Research Article Interleukin-27-924A/G gene polymorphism is associated with rheumatoid Arthritis in Egyptian population. Genet Mol Res. 2018;17(2). doi:https://doi.org/10.4238/gmr16039915.
- Hou S, Xiao X, Li F, Jiang Z, Kijlstra A, Yang P. Two-stage association study in Chinese Han identifies two independent associations in CCR1/CCR3 locus as candidate for Behcet’s disease susceptibility. Hum Genet. 2012;131(12):1841–1850. doi:https://doi.org/10.1007/s00439-012-1200-4.
- Tan H, Deng B, Yu H, et al. Genetic analysis of innate immunity in Behcet's disease identifies an association with IL-37 and IL-18RAP. Sci Rep. 2016;6:35802. doi:https://doi.org/10.1038/srep35802.
- Shahram F, Nikoopour E, Rezaei N, et al. Association of interleukin-2, interleukin-4 and transforming growth factor-beta gene polymorphisms with Behcet's disease. Clin Exp Rheumatol. 2011;29(4):S28–S31.
- Abdolmohammadi R, Bonyadi M. Polymorphisms of promoter region of TNF-α gene in Iranian Azeri Turkish patients with Behçet's disease. J Korean Med Sci. 2017;32(1):33–37. doi:https://doi.org/10.3346/jkms.2017.32.1.33.
- Hou S, Yang Z, Du L, et al. Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study . Arthritis Rheum. 2012;64(12):4104–4113. doi:https://doi.org/10.1002/art.37708.
- Li H, Liu Q, Hou S, et al. TNFAIP3 gene polymorphisms confer risk for Behcet's disease in a Chinese Han population. Hum Genet. 2013;132(3):293–300. doi:https://doi.org/10.1007/s00439-012-1250-7.
- Jiang Y, Cheng L, Li X, Zhou W, Zhang L. Associations between TNFSF4, TNFSF8 and TNFSF15 and Behçet's disease but not VKH syndrome in Han Chinese. Oncotarget. 2017;8(62):105037–105046. doi:https://doi.org/10.18632/oncotarget.22064.
- Lu S, Song S, Hou S, Li H, Yang P. Association of TNFSF4 Polymorphisms with Vogt-Koyanagi-Harada and Behcet's Disease in Han Chinese. Sci Rep. 2016;6:37257. doi:https://doi.org/10.1038/srep37257.
- Wu P, Du L, Hou S, et al. Association of LACC1, CEBPB-PTPN1, RIPK2 and ADO-EGR2 with ocular Behcet's disease in a Chinese Han population. Br J Ophthalmol. 2018;102(9):1308–1314. doi:https://doi.org/10.1136/bjophthalmol-2017-311753.
- Chen F, Xu L, Zhao T, Xiao X, Pan Y, Hou S. Genetic variation in the REL gene increases risk of Behcet's disease in a Chinese han population but that of PRKCQ does not. PloS One. 2016;11(1):e0147350. doi:https://doi.org/10.1371/journal.pone.0147350.
- Sperandeo MP, Tosco A, Izzo V, et al. Potential celiac patients: a model of celiac disease pathogenesis. PloS One. 2011;6(7):e21281. doi:https://doi.org/10.1371/journal.pone.0021281.
- Lee YJ, Horie Y, Wallace GR, et al. Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease. Ann Rheum Dis. 2013;72(9):1510–1516. doi:https://doi.org/10.1136/annrheumdis-2011-200288.
- Ombrello MJ, Kastner DL, Remmers EF. Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics. Curr Opin Rheumatol. 2015;27(4):349–356. doi:https://doi.org/10.1097/BOR.0000000000000189.
- Riahi P, Kazemnejad A, Mostafaei S, et al. ERAP1 polymorphisms interactions and their association with Behçet's disease susceptibly: Application of Model-Based Multifactor Dimension Reduction Algorithm (MB-MDR). PloS One. 2020;15(2):e0227997. doi:https://doi.org/10.1371/journal.pone.0227997.
- Hayashi T, Imai K, Morishita Y, Hayashi I, Kusunoki Y, Nakachi K. Identification of the NKG2D haplotypes associated with natural cytotoxic activity of peripheral blood lymphocytes and cancer immunosurveillance. Cancer Res. 2006;66(1):563–570. doi:https://doi.org/10.1158/0008-5472.CAN-05-2776.
- Karasneh J, Gül A, Ollier WE, Silman AJ, Worthington J. Whole‐genome screening for susceptibility genes in multicase families with Behçet's disease. Arthritis Rheum. 2005;52(6):1836–1842. doi:https://doi.org/10.1002/art.21060.
- Kim SJ, Lee S, Park C, Seo J-S, Kim J-I, Yu HG. Targeted resequencing of candidate genes reveals novel variants associated with severe Behçet’s uveitis. Exp Mol Med. 2013;45(10):e49–e49. doi:https://doi.org/10.1038/emm.2013.101.
- Xavier JM, Shahram F, Sousa I, et al. FUT2: filling the gap between genes and environment in Behçet's disease? Ann Rheum Dis. 2015;74(3):618–624. doi:https://doi.org/10.1136/annrheumdis-2013-204475.
- Zhou Y, Yu H, Hou S, et al. Association of a NOS3 gene polymorphism with Behçet’s disease but not with Vogt-Koyanagi-Harada syndrome in Han Chinese. Mol Vis. 2016;22:311–318.
- Kim J, Chang H, Lee S, et al. Endothelial nitric oxide synthase gene polymorphisms in Behçet’s disease and rheumatic diseases with vasculitis. Ann Rheum Dis. 2003;62(11):1083–1087. doi:https://doi.org/10.1136/ard.62.11.1083.
- Qin J, Li L, Zhang D, et al. Analysis of receptor tyrosine kinase genetics identifies two novel risk loci in GAS6 and PROS1 in Behçet's disease. Sci Rep. 2016;6:26662. doi:https://doi.org/10.1038/srep26662.
- Fei Y, Webb R, Cobb BL, Direskeneli H, Saruhan-Direskeneli G, Sawalha AH. Identification of novel genetic susceptibility loci for Behçet's disease using a genome-wide association study. Arthritis Res Ther. 2009;11(3):R66–R. doi:https://doi.org/10.1186/ar2695.
- Kirino Y, Zhou Q, Ishigatsubo Y, et al. Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease. Proc Natl Acad Sci USA. 2013;110(20):8134–8139. doi:https://doi.org/10.1073/pnas.1306352110.
- Remmers EF, Cosan F, Kirino Y, et al. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease. Nat Genet. 2010;42(8):698–702. doi:https://doi.org/10.1038/ng.625.
- Iwakura Y, Ishigame H. The IL-23/IL-17 axis in inflammation. J Clin Invest. 2006;116(5):1218–1222. doi:https://doi.org/10.1172/JCI28508.
- Steinman L. Mixed results with modulation of TH-17 cells in human autoimmune diseases. Nat Immunol. 2010;11(1):41–44. doi:https://doi.org/10.1038/ni.1803.
- Chang JT, Shevach EM, Segal BM. Regulation of interleukin (IL)-12 receptor beta2 subunit expression by endogenous IL-12: a critical step in the differentiation of pathogenic autoreactive T cells. J Exp Med. 1999;189(6):969–978. doi:https://doi.org/10.1084/jem.189.6.969.
- Cargill M, Schrodi SJ, Chang M, et al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet. 2007;80(2):273–290. doi:https://doi.org/10.1086/511051.
- Tang H, Jin X, Li Y, et al. A large-scale screen for coding variants predisposing to psoriasis. Nat Genet. 2014;46(1):45–50. doi:https://doi.org/10.1038/ng.2827.
- Rueda B, Orozco G, Raya E, et al. The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis. Ann Rheum Dis. 2008;67(10):1451–1454. doi:https://doi.org/10.1136/ard.2007.080283.
- Davidson SI, Jiang L, Cortes A, et al. Brief report: high-throughput sequencing of IL23R reveals a low-frequency, nonsynonymous single-nucleotide polymorphism that is associated with ankylosing spondylitis in a Han Chinese population . Arthritis Rheum. 2013;65(7):1747–1752. doi:https://doi.org/10.1002/art.37976.
- Duerr RH, Taylor KD, Brant SR, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science. 2006;314(5804):1461–1463. doi:https://doi.org/10.1126/science.1135245.
- Rivas MA, Beaudoin M, Gardet A, et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet. 2011;43(11):1066–1073. doi:https://doi.org/10.1038/ng.952.
- Momozawa Y, Mni M, Nakamura K, et al. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet. 2011;43(1):43–47. doi:https://doi.org/10.1038/ng.733.
- Beaudoin M, Goyette P, Boucher G, International IBD Genetics Consortium, et al. Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis. PLoS Genet. 2013;9(9):e1003723. doi:https://doi.org/10.1371/journal.pgen.1003723.
- Hunter CA. New IL-12-family members: IL-23 and IL-27, cytokines with divergent functions. Nat Rev Immunol. 2005;5(7):521–531. doi:https://doi.org/10.1038/nri1648.
- Kastelein RA, Hunter CA, Cua DJ. Discovery and biology of IL-23 and IL-27: related but functionally distinct regulators of inflammation. Annu Rev Immunol. 2007;25:221–242. doi:https://doi.org/10.1146/annurev.immunol.22.012703.104758.
- Paradowska‐Gorycka A, Raszkiewicz B, Jurkowska M, et al. Association of single nucleotide polymorphisms in the IL 27 gene with rheumatoid arthritis. Scand J Immunol. 2014;80(4):298–305. doi:https://doi.org/10.1111/sji.12209.
- Dieude P, Wipff J, Guedj M, et al. BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4. Arthritis Rheum. 2009;60(11):3447–3454. doi:https://doi.org/10.1002/art.24885.
- Di Marzio P, Dai WW, Franchin G, Chan AY, Symons M, Sherry B. Role of Rho family GTPases in CCR1- and CCR5-induced actin reorganization in macrophages. Biochem Biophys Res Commun. 2005;331(4):909–916. doi:https://doi.org/10.1016/j.bbrc.2005.04.015.
- Penido C, Castro-Faria-Neto HC, Vieira-de-Abreu A, et al. LPS induces eosinophil migration via CCR3 signaling through a mechanism independent of RANTES and Eotaxin. Am J Respir Cell Mol Biol. 2001;25(6):707–716. doi:https://doi.org/10.1165/ajrcmb.25.6.4401.
- Nakano H, Kirino Y, Takeno M, et al. GWAS-identified CCR1 and IL10 loci contribute to M1 macrophage-predominant inflammation in Behçet's disease. Arthritis Res Ther. 2018;20(1):124. doi:https://doi.org/10.1186/s13075-018-1613-0.
- Lee C. Genome-wide expression quantitative trait loci analysis using mixed models. Front Genet. 2018;9:341. doi:https://doi.org/10.3389/fgene.2018.00341.
- Dinarello C, Arend W, Sims J, et al. IL-1 family nomenclature. Nat Immunol. 2010;11(11):973. doi:https://doi.org/10.1038/ni1110-973.
- Garlanda C, Dinarello CA, Mantovani A. The interleukin-1 family: back to the future. Immunity. 2013;39(6):1003–1018. doi:https://doi.org/10.1016/j.immuni.2013.11.010.
- Boraschi D, Tagliabue A, eds. The Interleukin-1 Receptor Family. Seminars in Immunology. USA: Elsevier; 2013. doi:https://doi.org/10.1016/j.smim.2013.10.023.
- Barland CO, Zettersten E, Brown BS, Ye J, Elias PM, Ghadially R. Imiquimod-induced interleukin-1 alpha stimulation improves barrier homeostasis in aged murine epidermis. J Invest Dermatol. 2004;122(2):330–336. doi:https://doi.org/10.1046/j.0022-202X.2004.22203.x.
- Bou-Dargham MJ, Khamis ZI, Cognetta AB, Sang Q-XA. The role of interleukin-1 in inflammatory and malignant human skin diseases and the rationale for targeting interleukin-1 alpha. Med Res Rev. 2017;37(1):180–216. doi:https://doi.org/10.1002/med.21406.
- Morinobu A, Gadina M, Strober W, et al. STAT4 serine phosphorylation is critical for IL-12-induced IFN-gamma production but not for cell proliferation . Proc Natl Acad Sci USA. 2002;99(19):12281–12286. doi:https://doi.org/10.1073/pnas.182618999.
- Kim J, Park J, Lee E, Lee Y, Song Y, Lee E. Imbalance of Th17 to Th1 cells in Behcet’s disease. Clin Exp Rheumatol. 2010;28(4 Suppl 60):S16–S9.
- Watford WT, Hissong BD, Bream JH, Kanno Y, Muul L, O'shea JJ. Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4. Immunol Rev. 2004;202(1):139–156. doi:https://doi.org/10.1111/j.0105-2896.2004.00211.x.
- Mathur AN, Chang H-C, Zisoulis DG, et al. Stat3 and Stat4 direct development of IL-17-secreting Th cells. J Immunol. 2007;178(8):4901–4907. doi:https://doi.org/10.4049/jimmunol.178.8.4901.
- Boone DL, Turer EE, Lee EG, et al. The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses. Nat Immunol. 2004;5(10):1052–1060. doi:https://doi.org/10.1038/ni1110.
- Hitotsumatsu O, Ahmad R-C, Tavares R, et al. The ubiquitin-editing enzyme A20 restricts nucleotide-binding oligomerization domain containing 2-triggered signals. Immunity. 2008;28(3):381–390. doi:https://doi.org/10.1016/j.immuni.2008.02.002.
- Jäättelä M, Mouritzen H, Elling F, Bastholm L. A20 zinc finger protein inhibits TNF and IL-1 signaling. J Immunol. 1996;156(3):1166–1173.
- Lee EG, Boone DL, Chai S, Libby SL, et al. Failure to regulate TNF-induced NF-kappaB and cell death responses in A20-deficient mice . Science. 2000;289(5488):2350–2354. doi:https://doi.org/10.1126/science.289.5488.2350.
- Locksley RM, Killeen N, Lenardo MJ. The TNF and TNF receptor superfamilies: integrating mammalian biology. Cell. 2001;104(4):487–501. doi:https://doi.org/10.1016/s0092-8674(01)00237-9.
- Aggarwal BB. Signalling pathways of the TNF superfamily: a double-edged sword. Nat Rev Immunol. 2003;3(9):745–756. doi:https://doi.org/10.1038/nri1184.
- Watts TH. TNF/TNFR family members in costimulation of T cell responses. Annu Rev Immunol. 2005;23:23–68. doi:https://doi.org/10.1146/annurev.immunol.23.021704.115839.
- Vincent FB, Morand EF, Schneider P, Mackay F. The BAFF/APRIL system in SLE pathogenesis. Nat Rev Rheumatol. 2014;10(6):365–373. doi:https://doi.org/10.1038/nrrheum.2014.33.
- Filén S, Lahesmaa R. GIMAP Proteins in T-Lymphocytes. J Signal Transduct. 2010;2010:268589. doi:https://doi.org/10.1155/2010/268589.
- Nachbur U, Stafford CA, Bankovacki A, et al. A RIPK2 inhibitor delays NOD signalling events yet prevents inflammatory cytokine production. Nat Commun. 2015;6(1):6442. doi:https://doi.org/10.1038/ncomms7442.
- Kurotaki D, Tamura T. Transcriptional and epigenetic regulation of innate immune cell development by the transcription factor, interferon regulatory factor-8. J Interferon Cytokine Res. 2016;36(7):433–441. doi:https://doi.org/10.1089/jir.2015.0138.
- Huber R, Pietsch D, Panterodt T, Brand K. Regulation of C/EBPβ and resulting functions in cells of the monocytic lineage. Cell Signal. 2012;24(6):1287–1296. doi:https://doi.org/10.1016/j.cellsig.2012.02.007.
- Spalinger M, McCole D, Rogler G, Scharl M. Role of protein tyrosine phosphatases in regulating the immune system: implications for chronic intestinal inflammation. Inflamm Bowel Dis. 2015;21(3):645–655. doi:https://doi.org/10.1097/MIB.0000000000000297.
- Myers MP, Andersen JN, Cheng A, et al. TYK2 and JAK2 are substrates of protein-tyrosine phosphatase 1B. J Biol Chem. 2001;276(51):47771–47774. doi:https://doi.org/10.1074/jbc.C100583200.
- Safford M, Collins S, Lutz MA, et al. Egr-2 and Egr-3 are negative regulators of T cell activation. Nat Immunol. 2005;6(5):472–480. doi:https://doi.org/10.1038/ni1193.
- Gilmore TD, Gerondakis S. The c-Rel transcription factor in development and disease. Genes Cancer. 2011;2(7):695–711. doi:https://doi.org/10.1177/1947601911421925.
- Kochan G, Krojer T, Harvey D, et al. Crystal structures of the endoplasmic reticulum aminopeptidase-1 (ERAP1) reveal the molecular basis for N-terminal peptide trimming. Proc Natl Acad Sci U S A. 2011;108(19):7745–7750. doi:https://doi.org/10.1073/pnas.1101262108.
- Strange A, Capon F, Spencer CC, et al. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet. 2010;42(11):985.
- Evans DM, Spencer CC, Pointon JJ, et al. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet. 2011;43(8):761–767. doi:https://doi.org/10.1038/ng.873.
- Reeves E, Edwards CJ, Elliott T, James E. Naturally occurring ERAP1 haplotypes encode functionally distinct alleles with fine substrate specificity. J Immunol. 2013;191(1):35–43. doi:https://doi.org/10.4049/jimmunol.1300598.
- Mahmoudi M, Ashraf-Ganjouei A, Javinani A, et al. Epistatic interaction of ERAP1 and HLA-B*51 in Iranian patients with Behçet's disease. Sci Rep. 2018;8(1):17612. doi:https://doi.org/10.1038/s41598-018-35700-0.
- Takeuchi M, Ombrello MJ, Kirino Y, et al. A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B* 51 carriers. Ann Rheum Dis. 2016;75(12):2208–2211. annrheumdis-2015-209059. doi:https://doi.org/10.1136/annrheumdis-2015-209059.
- Guasp P, Barnea E, González-Escribano MF, et al. The Behçet's disease-associated variant of the aminopeptidase ERAP1 shapes a low affinity HLA-B* 51 peptidome by differential subpeptidome processing. J Biol Chem. 2017;292(23):9680–9689. M117. doi:https://doi.org/10.1074/jbc.M117.789180.
- García-León JA, Pinto-Medel MJ, García-Trujillo L, et al. Killer cell immunoglobulin-like receptor genes in Spanish multiple sclerosis patients. Mol Immunol. 2011;48(15–16):1896–1902. doi:https://doi.org/10.1016/j.molimm.2011.05.018.
- Fan D, Liu S, Yang T, et al. Association between KIR polymorphisms and ankylosing spondylitis in populations: a meta-analysis. Mod Rheumatol. 2014;24(6):985–991. doi:https://doi.org/10.3109/14397595.2014.894489.
- Wang W, Erbe AK, Alderson KA, Phillips E, et al. Human NK cells maintain licensing status and are subject to killer immunoglobulin-like receptor (KIR) and KIR-ligand inhibition following ex vivo expansion. Cancer Immunol Immunother. 2016;65(9):1047–1059. doi:https://doi.org/10.1007/s00262-016-1864-z.
- Hilton HG, Guethlein LA, Goyos A, et al. Polymorphic HLA-C receptors balance the functional characteristics of KIR haplotypes. J Immunol. 2015;195(7):3160–3170. doi:https://doi.org/10.4049/jimmunol.1501358.
- Díaz‐Peña R, Vidal‐Castiñeira JR, Mulero J, Sánchez A, Queiro R, López‐Larrea C. Activating killer immunoglobulin‐like receptors genes are associated with increased susceptibility to ankylosing spondylitis. Clin Exp Immunol. 2015;180(2):201–206. doi:https://doi.org/10.1111/cei.12568.
- Pellett F, Siannis F, Vukin I, Lee P, Urowitz M, Gladman D. KIRs and autoimmune disease: studies in systemic lupus erythematosus and scleroderma. Tissue Antigens. 2007;69(s1):106–108. doi:https://doi.org/10.1111/j.1399-0039.2006.762_6.x.
- Prakash S, Alam S, Bharadwaj U, Aggarwal A, Mishra RN, Agrawal S. Associations of killer cell immunoglobulin like receptors with rheumatoid arthritis among North Indian population. Hum Immunol. 2014;75(8):802–807. doi:https://doi.org/10.1016/j.humimm.2014.05.014.
- Nazari M, Mahmoudi M, Rahmani F, et al. Association of killer cell Immunoglobulin- Like Receptor Genes in Iranian Patients with Rheumatoid Arthritis . PloS One. 2015;10(12):e0143757. doi:https://doi.org/10.1371/journal.pone.0143757.
- Takeno M, Shimoyama Y, Kashiwakura J-I, Nagafuchi H, Sakane T, Suzuki N. Abnormal killer inhibitory receptor expression on natural killer cells in patients with Behçet's disease. Rheumatol Int. 2004;24(4):212–216. doi:https://doi.org/10.1007/s00296-003-0352-x.
- Saruhan-Direskeneli G, Uyar F, Cefle A, et al. Expression of KIR and C-type lectin receptors in Behcet's disease. Rheumatology. 2004;43(4):423–427. doi:https://doi.org/10.1093/rheumatology/keh063.
- Middleton D, Meenagh A, Sleator C, et al. No association of KIR genes with Behcet's disease. Tissue Antigens. 2007;70(5):435–438. doi:https://doi.org/10.1111/j.1399-0039.2007.00929.x.
- Arbour NC, Lorenz E, Schutte BC, et al. TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet. 2000;25(2):187–191. doi:https://doi.org/10.1038/76048.
- Chae JJ, Aksentijevich I, Kastner DL. Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. Br J Haematol. 2009;146(5):467–478. doi:https://doi.org/10.1111/j.1365-2141.2009.07733.x.