{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T19:26:04Z","timestamp":1791919564947,"version":"4.3.4"},"reference-count":189,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T00:00:00Z","timestamp":1747958400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Ankylosing Spondylitis (AS) is a rare autoinflammatory disorder affecting 0.1\u20131.4% of the population, with increasing recognition over the past 20 years. Although the specific causes of AS remain unclear, the presence of the HLA-B27 gene is associated with increased risk, though only 1\u20135% of carriers develop the disease. Despite extensive research, no definitive lab tests exist, and many patients are diagnosed years after symptom onset. Methods: In the present study, in order to investigate the disease\u2019s genetic background in correlation with autoimmune diseases, a metanalysis has been performed following PRISMA guidelines using Scopus and PubMed publications towards extracting single-nucleotide polymorphisms (SNPs) of high importance for the disease. Moreover, the polymorphisms have been annotated and analyzed using information from several databases, including PubMed, LitVar2, ClinVar, and Gene Ontology. Results: From 1940 screened titles and abstracts, 57,909 studies were selected, with 539 meeting the inclusion criteria. The genetic background of AS is described through 794 genetic variants, of which 76 SNPs are directly associated with AS (Classes A and B), predominantly located in intronic regions. ERAP1 and IL23R emerged as key genes implicated in AS, while chromosomes 1, 2, and 5 accumulated the most associated SNPs. Functional enrichment revealed strong associations with immune regulation and interleukin signaling pathways, particularly IL6 and IL10 signaling. IL-6 promotes inflammation in AS, while IL-10 tries to suppress it, acting as an anti-inflammatory cytokine. Of the 78 AS-related SNPs, 16 were unique to AS, while 66 were common to autoimmune diseases, especially rheumatoid arthritis (RA) and psoriasis (PsO), suggesting genetic overlap between these diseases. Conclusions: This study creates a comprehensive genetic map of AS-associated SNPs, highlighting key pathways and genetic overlap with autoimmune diseases. These findings contribute to understanding disease mechanisms and could guide therapeutic interventions, advancing precision medicine in AS management.<\/jats:p>","DOI":"10.3390\/jcm14113677","type":"journal-article","created":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T12:24:18Z","timestamp":1748003058000},"page":"3677","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The Genetic Background of Ankylosing Spondylitis Reveals a Distinct Overlap with Autoimmune Diseases: A Systematic Review"],"prefix":"10.3390","volume":"14","author":[{"given":"Theodora","family":"Zormpa","sequence":"first","affiliation":[{"name":"Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, 11855 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6894-0774","authenticated-orcid":false,"given":"Trias","family":"Thireou","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, 11855 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5639-0528","authenticated-orcid":false,"given":"Apostolos","family":"Beloukas","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of West Attica, Agioy Spyridonos, 12243 Egaleo, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2313-1305","authenticated-orcid":false,"given":"Dimitrios","family":"Chaniotis","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of West Attica, Agioy Spyridonos, 12243 Egaleo, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-5801-5790","authenticated-orcid":false,"given":"Rebecca","family":"Golfinopoulou","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, 11855 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1823-6102","authenticated-orcid":false,"given":"Dimitrios","family":"Vlachakis","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, 11855 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0919-0571","authenticated-orcid":false,"given":"Elias","family":"Eliopoulos","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, 11855 Athens, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9577-9923","authenticated-orcid":false,"given":"Louis","family":"Papageorgiou","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Department of Biotechnology, Agricultural University of Athens, 11855 Athens, Greece"},{"name":"Department of Biomedical Sciences, University of West Attica, Agioy Spyridonos, 12243 Egaleo, Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,23]]},"reference":[{"key":"ref_1","unstructured":"Sen, R., Goyal, A., and Hurley, J.A. (2025). Seronegative Spondyloarthropathy. StatPearls, StatPearls Publishing."},{"key":"ref_2","first-page":"780","article-title":"Ankylosing spondylitis: An update","volume":"42","author":"Golder","year":"2013","journal-title":"Aust. Fam. Physician"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1379","DOI":"10.1016\/S0140-6736(07)60635-7","article-title":"Ankylosing spondylitis","volume":"369","author":"Braun","year":"2007","journal-title":"Lancet"},{"key":"ref_4","first-page":"2142","article-title":"Axial spondyloarthritis: One year in review 2023","volume":"41","author":"Fattorini","year":"2023","journal-title":"Clin. Exp. Rheumatol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/acr2.11492","article-title":"Clinical Images: A snapshot from the past: Untreated ankylosing spondylitis in the biologic era","volume":"5","author":"Ciaffi","year":"2023","journal-title":"ACR Open Rheumatol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"108","DOI":"10.3109\/09273948.2011.559302","article-title":"An update on the genetics of HLA B27-associated acute anterior uveitis","volume":"19","author":"Martin","year":"2011","journal-title":"Ocul. Immunol. Inflamm."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1002\/acr.24616","article-title":"Mortality in Ankylosing Spondylitis According to Treatment: A Nationwide Retrospective Cohort Study of 5,900 Patients From Israel","volume":"74","author":"Shabat","year":"2022","journal-title":"Arthritis Care Res."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1111\/1756-185X.14070","article-title":"Evaluation of an ankylosing spondylitis education and self-management program: Beneficial effects on ankylosing spondylitis specific outcomes","volume":"24","author":"Inderjeeth","year":"2021","journal-title":"Int. J. Rheum. Dis."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Paroli, M., Caccavale, R., Paroli, M.P., Spadea, L., and Accapezzato, D. (2023). Janus Kinase Inhibitors: A New Tool for the Treatment of Axial Spondyloarthritis. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24021027"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Pelechas, E., Kaltsonoudis, E., Voulgari, P.V., and Drosos, A.A. (2019). Ankylosing Spondylitis. Illustrated Handbook of Rheumatic and Musculo-Skeletal Diseases, Springer International Publishing.","DOI":"10.1007\/978-3-030-03664-5"},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Alexander, M. (2023). Ankylosing Spondylitis Pathogenesis and Pathophysiology, IntechOpen.","DOI":"10.5772\/intechopen.109164"},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Zheng, M., and Zhu, J. (2022). Innate Lymphoid Cells and Intestinal Inflammatory Disorders. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23031856"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/s13075-024-03266-0","article-title":"The causal relationship between immune cells and ankylosing spondylitis: A bidirectional Mendelian randomization study","volume":"26","author":"Fei","year":"2024","journal-title":"Arthritis Res. Ther."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"220","DOI":"10.4078\/jrd.2023.0041","article-title":"Updates on ankylosing spondylitis: Pathogenesis and therapeutic agents","volume":"30","author":"Kim","year":"2023","journal-title":"J. Rheum. Dis."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Song, Z.-Y., Yuan, D., and Zhang, S.-X. (2022). Role of the microbiome and its metabolites in ankylosing spondylitis. Front. Immunol., 13.","DOI":"10.3389\/fimmu.2022.1010572"},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Kavadichanda, C.G., Geng, J., Bulusu, S.N., Negi, V.S., and Raghavan, M. (2021). Spondyloarthritis and the Human Leukocyte Antigen (HLA)-B*27 Connection. Front. Immunol., 12.","DOI":"10.3389\/fimmu.2021.601518"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Xiong, Y., Cai, M., Xu, Y., Dong, P., Chen, H., He, W., and Zhang, J. (2022). Joint together: The etiology and pathogenesis of ankylosing spondylitis. Front. Immunol., 13.","DOI":"10.3389\/fimmu.2022.996103"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1038\/gene.2017.5","article-title":"Investigation of a possible extended risk haplotype in the IL23R region associated with ankylosing spondylitis","volume":"18","author":"Roberts","year":"2017","journal-title":"Genes. Immun."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"e15023","DOI":"10.1111\/1756-185X.15023","article-title":"Genetic risk factors in ankylosing spondylitis: Insights into etiology and disease pathogenesis","volume":"27","author":"Mathew","year":"2024","journal-title":"Int. J. Rheum. Dis."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"111303","DOI":"10.1016\/j.humimm.2025.111303","article-title":"Decoding human leukocyte antigen Beta-27; its active alleles in Ankylosing Spondylitis and computational insights of potential inhibitors: HLA-B27 in AS; its variants and inhibitors","volume":"86","author":"Altaf","year":"2025","journal-title":"Human Immunol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e163","DOI":"10.1038\/cti.2017.49","article-title":"Progress of genome-wide association studies of ankylosing spondylitis","volume":"6","author":"Li","year":"2017","journal-title":"Clin. Transl. Immunol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1038\/ng.2667","article-title":"Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci","volume":"45","author":"Cortes","year":"2013","journal-title":"Nat. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1007\/s10067-015-2949-3","article-title":"Biomarkers for diagnosis, monitoring of progression, and treatment responses in ankylosing spondylitis and axial spondyloarthritis","volume":"34","author":"Reveille","year":"2015","journal-title":"Clin. Rheumatol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1136\/ard.59.11.883","article-title":"Recurrence risk modelling of the genetic susceptibility to ankylosing spondylitis","volume":"59","author":"Brown","year":"2000","journal-title":"Ann. Rheum. Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1695","DOI":"10.1093\/rheumatology\/kez519","article-title":"Familial aggregation and heritability of ankylosing spondylitis\u2014A Swedish nested case-control study","volume":"59","author":"Morin","year":"2020","journal-title":"Rheumatology"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/imm.13242","article-title":"New developments in our understanding of ankylosing spondylitis pathogenesis","volume":"161","author":"Voruganti","year":"2020","journal-title":"Immunology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1136\/annrheumdis-2023-eular.2310","article-title":"AB0002\u2005The genetic background of ankylosing spondylitis indicates a strong correlation with other autoimmune diseases","volume":"82","author":"Papageorgiou","year":"2023","journal-title":"Ann. Rheum. Dis."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"96","DOI":"10.3892\/mmr.2023.12983","article-title":"Genetic factors involved in the co-occurrence of endometriosis with ankylosing spondylitis (Review)","volume":"27","author":"Zervou","year":"2023","journal-title":"Mol. Med. Rep."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"512","DOI":"10.3892\/mmr.2021.12151","article-title":"Clinical Genomic, phenotype and epigenetic insights into the pathology, autoimmunity and weight management of patients with Myasthenia Gravis (Review)","volume":"24","author":"Golfinopoulou","year":"2021","journal-title":"Mol. Med. Rep."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"3079","DOI":"10.1007\/s10067-021-05679-7","article-title":"Ankylosing spondylitis risk factors: A systematic literature review","volume":"40","author":"Hwang","year":"2021","journal-title":"Clin. Rheumatol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/d41586-021-01839-6","article-title":"Cracking the genetic code of autoimmune disease","volume":"595","author":"Makin","year":"2021","journal-title":"Nature"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1002\/msc.1513","article-title":"Ankylosing spondylitis and undifferentiated spondyloarthritis: The relationship between living with these diseases and psychological well-being","volume":"19","author":"Kelly","year":"2021","journal-title":"Musculoskelet. Care"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.rdc.2017.04.006","article-title":"Genetics and the Causes of Ankylosing Spondylitis","volume":"43","author":"Hanson","year":"2017","journal-title":"Rheum. Dis. Clin. N. Am."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1111\/1756-185X.14080","article-title":"Epigenetics of ankylosing spondylitis: Recent developments","volume":"24","author":"Yang","year":"2021","journal-title":"Int. J. Rheum. Dis."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"100306","DOI":"10.1016\/j.xgen.2023.100306","article-title":"Comprehensive epigenomic profiling reveals the extent of disease-specific chromatin states and informs target discovery in ankylosing spondylitis","volume":"3","author":"Brown","year":"2023","journal-title":"Cell Genom."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Chimenti, M.S., Perricone, C., D\u2019Antonio, A., Ferraioli, M., Conigliaro, P., Triggianese, P., Ciccacci, C., Borgiani, P., and Perricone, R. (2021). Genetics, Epigenetics, and Gender Impact in Axial-Spondyloarthritis Susceptibility: An Update on Genetic Polymorphisms and Their Sex Related Associations. Front. Genet., 12.","DOI":"10.3389\/fgene.2021.671976"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1007\/s00281-022-00912-0","article-title":"Genetics of rheumatoid arthritis","volume":"44","author":"Padyukov","year":"2022","journal-title":"Semin. Immunopathol."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Primavera, M., Giannini, C., and Chiarelli, F. (2020). Prediction and Prevention of Type 1 Diabetes. Front. Endocrinol., 11.","DOI":"10.3389\/fendo.2020.00248"},{"key":"ref_39","first-page":"1409069","article-title":"The Involvement of HLA Class II Alleles in Multiple Sclerosis: A Systematic Review with Meta-analysis","volume":"2019","author":"Capittini","year":"2019","journal-title":"Dis. Markers"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.imlet.2013.12.005","article-title":"Genetics of autoimmunity: An update","volume":"158","author":"Sorrentino","year":"2014","journal-title":"Immunol. Lett."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/978-3-031-31982-2_11","article-title":"DRDs and Brain-Derived Neurotrophic Factor Share a Common Therapeutic Ground: A Novel Bioinformatic Approach Sheds New Light Toward Pharmacological Treatment of Cognitive and Behavioral Disorders","volume":"1424","author":"Papageorgiou","year":"2023","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"D977","DOI":"10.1093\/nar\/gkac1010","article-title":"The NHGRI-EBI GWAS Catalog: Knowledgebase and deposition resource","volume":"51","author":"Sollis","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"115","DOI":"10.3892\/ijmm.2021.4948","article-title":"Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis","volume":"47","author":"Papageorgiou","year":"2021","journal-title":"Int. J. Mol. Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"8","DOI":"10.3892\/ijmm.2021.5063","article-title":"Epione application: An integrated web-toolkit of clinical genomics and personalized medicine in systemic lupus erythematosus","volume":"49","author":"Papageorgiou","year":"2022","journal-title":"Int. J. Mol. Med."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1093\/nar\/29.1.308","article-title":"dbSNP: The NCBI database of genetic variation","volume":"29","author":"Sherry","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkt1113","article-title":"ClinVar: Public archive of relationships among sequence variation and human phenotype","volume":"42","author":"Landrum","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1038\/s41588-023-01414-x","article-title":"Tracking genetic variants in the biomedical literature using LitVar 2.0","volume":"55","author":"Allot","year":"2023","journal-title":"Nat. Genet."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/cpbi.27","article-title":"Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes","volume":"58","author":"Amberger","year":"2017","journal-title":"Curr. Protoc. Bioinform."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"D587","DOI":"10.1093\/nar\/gkac963","article-title":"KEGG for taxonomy-based analysis of pathways and genomes","volume":"51","author":"Kanehisa","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"W216","DOI":"10.1093\/nar\/gkac194","article-title":"DAVID: A web server for functional enrichment analysis and functional annotation of gene lists (2021 update)","volume":"50","author":"Sherman","year":"2022","journal-title":"Nucleic Acids Res."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"D672","DOI":"10.1093\/nar\/gkad1025","article-title":"The Reactome Pathway Knowledgebase 2024","volume":"52","author":"Milacic","year":"2024","journal-title":"Nucleic Acids Res."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"7146","DOI":"10.1038\/ncomms8146","article-title":"Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1","volume":"6","author":"Cortes","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Xiong, D.K., Shi, X., Han, M.M., Zhang, X.M., Wu, N.N., Sheng, X.Y., and Wang, J.N. (2022). The regulatory mechanism and potential application of IL-23 in autoimmune diseases. Front. Pharmacol., 13.","DOI":"10.3389\/fphar.2022.982238"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.7150\/thno.40659","article-title":"Re-recognition of pseudogenes: From molecular to clinical applications","volume":"10","author":"Chen","year":"2020","journal-title":"Theranostics"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/art.38291","article-title":"Review: The Interleukin-23\/Interleukin-17 Axis in Spondyloarthritis Pathogenesis: Th17 and Beyond","volume":"66","author":"Smith","year":"2014","journal-title":"Arthritis Rheumatol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1186\/s13075-019-1885-z","article-title":"Targeting inflammatory pathways in axial spondyloarthritis","volume":"21","author":"Furst","year":"2019","journal-title":"Arthritis Res. Ther."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Fang, P., Liu, X., Qiu, Y., Wang, Y., Wang, D., Zhao, J., Ding, H., and Bao, N. (2023). Exploring causal correlations between inflammatory cytokines and ankylosing spondylitis: A bidirectional mendelian-randomization study. Front. Immunol., 14.","DOI":"10.3389\/fimmu.2023.1285106"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1097\/MAJ.0b013e3182514059","article-title":"Management of Comorbidities in Ankylosing Spondylitis","volume":"343","author":"Rosenbaum","year":"2012","journal-title":"Am. J. Med. Sci."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.berh.2006.03.010","article-title":"Ankylosing spondylitis and bowel disease","volume":"20","author":"Rudwaleit","year":"2006","journal-title":"Best Pract. Res. Clin. Rheumatol."},{"key":"ref_60","first-page":"8500567","article-title":"Concurrence of Rheumatoid Arthritis and Ankylosing Spondylitis: Analysis of Seven Cases and Literature Review","volume":"2022","year":"2022","journal-title":"Case Rep. Rheumatol."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Hu, P., Jiao, R., Jin, L., and Xiong, M. (2018). Application of Causal Inference to Genomic Analysis: Advances in Methodology. Front. Genet., 9.","DOI":"10.3389\/fgene.2018.00238"},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Ahn, S.M., Kim, M., Kim, Y.J., Lee, Y., and Kim, Y.G. (2022). Risk of Acute Anterior Uveitis in Ankylosing Spondylitis According to the Type of Tumor Necrosis Factor-Alpha Inhibitor and History of Uveitis: A Nationwide Population-Based Study. J. Clin. Med., 11.","DOI":"10.3390\/jcm11030631"},{"key":"ref_63","first-page":"385","article-title":"Failure of arthrodesis of the wrist in \u201cdisappearing carpal bones disease\u201d","volume":"32","author":"Thacker","year":"1987","journal-title":"J. R. Coll. Surg. Edinb."},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Mateu-Arrom, L., and Puig, L. (2023). Genetic and Epigenetic Mechanisms of Psoriasis. Genes, 14.","DOI":"10.20944\/preprints202307.1499.v1"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"286","DOI":"10.3109\/1547691X.2015.1115448","article-title":"Protective role of R381Q (rs11209026) polymorphism in IL-23R gene in immune-mediated diseases: A comprehensive review","volume":"13","author":"Abdollahi","year":"2016","journal-title":"J. Immunotoxicol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"iv4","DOI":"10.1093\/rheumatology\/keab266","article-title":"IL-23 orchestrating immune cell activation in arthritis","volume":"60","author":"Najm","year":"2021","journal-title":"Rheumatology"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.4049\/jimmunol.1401850","article-title":"The human IL-23 receptor rs11209026 A allele promotes the expression of a soluble IL-23R-encoding mRNA species","volume":"194","author":"Yu","year":"2015","journal-title":"J. Immunol."},{"key":"ref_68","doi-asserted-by":"crossref","unstructured":"Di Meglio, P., Di Cesare, A., Laggner, U., Chu, C.C., Napolitano, L., Villanova, F., Tosi, I., Capon, F., Trembath, R.C., and Peris, K. (2011). The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0017160"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"4067","DOI":"10.1007\/s10528-023-10644-x","article-title":"Association of Interleukin 23 Receptor Polymorphisms with Predisposition to Rheumatoid Arthritis: An Updated Meta and Trial Sequential Analysis","volume":"62","author":"Sarangi","year":"2024","journal-title":"Biochem. Genet."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1080\/1744666X.2018.1491308","article-title":"Complex role of IL-23R polymorphisms on ankylosing spondylitis: A meta-analysis","volume":"14","author":"Zhong","year":"2018","journal-title":"Expert. Rev. Clin. Immunol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/ng.311","article-title":"Genome-wide scan reveals association of psoriasis with IL-23 and NF-\u03baB pathways","volume":"41","author":"Nair","year":"2009","journal-title":"Nat. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Wang, C.Y., Wang, C.W., Chen, C.B., Chen, W.T., Chang, Y.C., Hui, R.C., and Chung, W.H. (2023). Pharmacogenomics on the Treatment Response in Patients with Psoriasis: An Updated Review. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24087329"},{"key":"ref_73","doi-asserted-by":"crossref","unstructured":"Wang, R., and Maksymowych, W.P. (2021). Targeting the Interleukin-23\/Interleukin-17 Inflammatory Pathway: Successes and Failures in the Treatment of Axial Spondyloarthritis. Front. Immunol., 12.","DOI":"10.3389\/fimmu.2021.715510"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s11033-012-2068-z","article-title":"Marked diversity of IL23R gene haplotype variants in rheumatoid arthritis comparing with Crohn\u2019s disease and ankylosing spondylitis","volume":"40","author":"Szabo","year":"2013","journal-title":"Mol. Biol. Rep."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1097\/RHU.0000000000000610","article-title":"The Diagnostic and Prognostic Role of Interleukin 12B and Interleukin 6R Gene Polymorphism in Patients With Ankylosing Spondylitis","volume":"24","author":"Ruan","year":"2018","journal-title":"J. Clin. Rheumatol."},{"key":"ref_76","doi-asserted-by":"crossref","unstructured":"Hong, J., Qu, Z., Ji, X., Li, C., Zhang, G., Jin, C., Wang, J., Zhang, Y., Shen, Y., and Meng, J. (2021). Genetic Associations Between IL-6 and the Development of Autoimmune Arthritis Are Gender-Specific. Front. Immunol., 12.","DOI":"10.3389\/fimmu.2021.707617"},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Purzycka-Bohdan, D.A.-O., Nedoszytko, B.A.-O., Sobalska-Kwapis, M.A.-O., Zab\u0142otna, M.A.-O., \u017bmijewski, M.A.-O., Wierzbicka, J.A.-O., Gle\u0144, J., Strapagiel, D.A.-O., Szczerkowska-Dobosz, A., and Nowicki, R.A.-O. (2023). Assessment of the Potential Role of Selected Single Nucleotide Polymorphisms (SNPs) of Genes Related to the Functioning of Regulatory T Cells in the Pathogenesis of Psoriasis. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms24076061"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1016\/j.ajhg.2014.02.013","article-title":"Fine mapping seronegative and seropositive rheumatoid arthritis to shared and distinct HLA alleles by adjusting for the effects of heterogeneity","volume":"94","author":"Han","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/s41588-019-0550-4","article-title":"Identifying cross-disease components of genetic risk across hospital data in the UK Biobank","volume":"52","author":"Cortes","year":"2020","journal-title":"Nat. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"65","DOI":"10.5114\/ceji.2019.84019","article-title":"Ankylosing spondylitis: Analysis of gene-gene interactions between IL-12\u03b2, JAK2, and STAT3 in Han Chinese and Algerian cohorts","volume":"44","author":"Saadi","year":"2019","journal-title":"Cent. Eur. J. Immunol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s00296-018-4204-0","article-title":"Genetic variations in the IL-12B gene in association with IL-23 and IL-12p40 serum levels in ankylosing spondylitis","volume":"39","author":"Ivanova","year":"2019","journal-title":"Rheumatol. Int."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"3728179","DOI":"10.1155\/2024\/3728179","article-title":"Association of Cytokine IL-17, IL-4, IL-6, and IL-12 Gene Polymorphisms in Rheumatoid Arthritis Patients in a Tertiary Care Hospital in Bangladesh","volume":"2024","author":"Jahan","year":"2024","journal-title":"Int. J. Rheumatol."},{"key":"ref_83","first-page":"19","article-title":"Association of Interleukin-12B Polymorphism and Serum Level of Interleukin-12 in a Sample of Egyptian Patients with Rheumatoid Arthritis","volume":"27","author":"Nouby","year":"2020","journal-title":"Egypt. J. Immunol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.cyto.2015.09.007","article-title":"Association between polymorphisms of interleukin 12 and rheumatoid arthritis associated biomarkers in a Chinese population","volume":"76","author":"Shen","year":"2015","journal-title":"Cytokine"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1111\/sji.12514","article-title":"IL-12B Gene Polymorphisms and IL-12 p70 Serum Levels Among Patients with Rheumatoid Arthritis","volume":"85","author":"Sowinska","year":"2017","journal-title":"Scand. J. Immunol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1007\/s00277-022-04841-8","article-title":"Risk prediction of CMV reactivation after allogeneic stem cell transplantation using five non-HLA immunogenetic polymorphisms","volume":"101","author":"Vallejo","year":"2022","journal-title":"Ann. Hematol."},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"Liu, J., Dong, Z., Zhu, Q., He, D., Ma, Y., Du, A., He, F., Zhao, D., Xu, X., and Zhang, H. (2016). TNF-\u03b1 Promoter Polymorphisms Predict the Response to Etanercept More Powerfully than that to Infliximab\/Adalimumab in Spondyloarthritis. Sci. Rep., 6.","DOI":"10.1038\/srep32202"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.3899\/jrheum.131315","article-title":"Tumor Necrosis Factor\u2013\u03b1 Promoter \u2212308\/238 Polymorphism Association with Less Severe Disease in Ankylosing Spondylitis is Unrelated to Serum TNF-\u03b1 and Does Not Predict TNF Inhibitor Response","volume":"41","author":"Nossent","year":"2014","journal-title":"J. Rheumatol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"2907062","DOI":"10.1155\/2019\/2907062","article-title":"Are There Any Common Genetic Risk Markers for Rheumatoid Arthritis and Periodontal Diseases? A Case-Control Study","volume":"2019","author":"Schulz","year":"2019","journal-title":"Mediat. Inflamm."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1055\/s-0042-1743259","article-title":"Psoriasis: An Immunogenetic Perspective","volume":"9","author":"Kocaaga","year":"2022","journal-title":"Glob. Med. Genet."},{"key":"ref_91","first-page":"933","article-title":"Association of PTPN22 polymorphsims and ankylosing spondylitis susceptibility","volume":"8","author":"Meng","year":"2015","journal-title":"Int. J. Clin. Exp. Pathol."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"380","DOI":"10.3109\/03009742.2014.899390","article-title":"A variant within intron 1 of the PTPN22 gene decreases the genetic susceptibility of ankylosing spondylitis in a central south Chinese Han population","volume":"43","author":"Tang","year":"2014","journal-title":"Scand. J. Rheumatol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/j.humimm.2016.04.021","article-title":"PTPN22 polymorphisms, but not R620W, were associated with the genetic susceptibility of systemic lupus erythematosus and rheumatoid arthritis in a Chinese Han population","volume":"77","author":"Tang","year":"2016","journal-title":"Human Immunol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1111\/j.1365-2133.2008.08482.x","article-title":"Polymorphisms in the PTPN22 region are associated with psoriasis of early onset","volume":"158","author":"Smith","year":"2008","journal-title":"Br. J. Dermatol."},{"key":"ref_95","unstructured":"Akhondi, H., and Varacallo, M. (2024). Rheumatoid Arthritis and Ankylosing Spondylitis. StatPearls, StatPearls Publishing LLC."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"450","DOI":"10.3748\/wjg.v29.i3.450","article-title":"Seronegative spondyloarthropathy-associated inflammatory bowel disease","volume":"29","author":"Wang","year":"2023","journal-title":"World J. Gastroenterol."},{"key":"ref_97","first-page":"19","article-title":"Pathogenesis of rheumatoid arthritis","volume":"61","author":"Miroslav","year":"2014","journal-title":"Reumatizam"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1080\/07853890701477546","article-title":"Rheumatoid arthritis and the complement system","volume":"39","author":"Okroj","year":"2007","journal-title":"Ann. Med."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1007\/s40265-019-01075-3","article-title":"Secukinumab: A Review in Ankylosing Spondylitis","volume":"79","author":"Blair","year":"2019","journal-title":"Drugs"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/nrrheum.2015.53","article-title":"The IL-23-IL-17 axis in inflammatory arthritis","volume":"11","author":"Lubberts","year":"2015","journal-title":"Nat. Rev. Rheumatol."},{"key":"ref_101","doi-asserted-by":"crossref","unstructured":"Huang, J., Fu, X., Chen, X., Li, Z., Huang, Y., and Liang, C. (2021). Promising Therapeutic Targets for Treatment of Rheumatoid Arthritis. Front. Immunol., 12.","DOI":"10.3389\/fimmu.2021.686155"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1038\/nrrheum.2012.170","article-title":"Possible roles of IL-12-family cytokines in rheumatoid arthritis","volume":"9","author":"Pope","year":"2013","journal-title":"Nat. Rev. Rheumatol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"i103","DOI":"10.1136\/ard.59.suppl_1.i103","article-title":"Role of interleukin 1 and interleukin 1 receptor antagonist in the mediation of rheumatoid arthritis","volume":"59","author":"Schiff","year":"2000","journal-title":"Ann. Rheum. Dis."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1080\/08916934.2022.2076837","article-title":"Associations between IL-23R gene polymorphism (rs10889677 A\/C) and ankylosing spondylitis and rheumatoid arthritis susceptibility: A meta-analysis with trial sequential analysis","volume":"55","author":"Zhang","year":"2022","journal-title":"Autoimmunity"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"11821","DOI":"10.1007\/s11033-022-07922-z","article-title":"A functional microRNA binding site variant in IL-23R gene in systemic lupus erythematosus and rheumatoid arthritis: Is there any correlation?","volume":"49","author":"Alesaeidi","year":"2022","journal-title":"Mol. Biol. Rep."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1136\/postgradmedj-2018-135665","article-title":"Association between cytokine gene polymorphisms and ankylosing spondylitis susceptibility: A systematic review and meta-analysis","volume":"94","author":"Xia","year":"2018","journal-title":"Postgrad. Med. J."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1007\/s00296-021-04881-9","article-title":"IL-23R gene polymorphisms in rheumatoid arthritis","volume":"42","author":"Soysal","year":"2022","journal-title":"Rheumatol. Int."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1111\/1756-185X.14479","article-title":"Interleukin 23 receptor gene polymorphisms and their role in the inflammatory status of rheumatoid arthritis patients in an Iranian population","volume":"26","author":"Abbasifard","year":"2023","journal-title":"Int. J. Rheum. Dis."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/s00011-011-0398-2","article-title":"Associations between interleukin-23R polymorphisms and ankylosing spondylitis susceptibility: A meta-analysis","volume":"61","author":"Lee","year":"2012","journal-title":"Inflamm. Res."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.cca.2009.10.014","article-title":"Association of IL-1F7 Gene with susceptibility to human leukocyte antigen-B27 positive ankylosing spondylitis in Han Chinese population","volume":"411","author":"Pan","year":"2010","journal-title":"Clin. Chim. Acta"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1007\/s10528-021-10149-5","article-title":"Relationship Between IL1 Gene Polymorphism and Susceptibility to Ankylosing Spondylitis: An Updated and Supplemented Meta-Analysis","volume":"60","author":"Gao","year":"2022","journal-title":"Biochem. Genet."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1080\/08916934.2018.1551373","article-title":"IL-37 gene variant (rs3811047): A marker of disease activity in rheumatoid arthritis: A pilot study","volume":"51","author":"Saleh","year":"2018","journal-title":"Autoimmunity"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1136\/annrheumdis-2011-200439","article-title":"Association between the IL-1 family gene cluster and spondyloarthritis","volume":"71","author":"Monnet","year":"2012","journal-title":"Ann. Rheum. Dis."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"190","DOI":"10.3109\/03009740903447028","article-title":"The interleukin-1 family gene polymorphisms in Korean patients with rheumatoid arthritis","volume":"39","author":"Jung","year":"2010","journal-title":"Scand. J. Rheumatol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1136\/ard.2007.081364","article-title":"Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis","volume":"67","author":"Sims","year":"2008","journal-title":"Ann. Rheum. Dis."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1159\/000510641","article-title":"Associations between Polymorphisms in the IL-1 Gene and the Risk of Rheumatoid Arthritis and Systemic Lupus Erythematosus: Evidence from a Meta-Analysis","volume":"182","author":"Zhu","year":"2020","journal-title":"Int. Arch. Allergy Immunol."},{"key":"ref_117","doi-asserted-by":"crossref","unstructured":"Wang, Z., Kong, L., Zhang, H., Sun, F., Guo, Z., Zhang, R., and Dou, Y. (2021). Tumor Necrosis Factor Alpha -308G\/A Gene Polymorphisms Combined with Neutrophil-to-Lymphocyte and Platelet-to-Lymphocyte Ratio Predicts the Efficacy and Safety of Anti-TNF-\u03b1 Therapy in Patients with Ankylosing Spondylitis, Rheumatoid Arthritis, and Psoriasis Arthritis. Front. Pharmacol., 12.","DOI":"10.3389\/fphar.2021.811719"},{"key":"ref_118","doi-asserted-by":"crossref","unstructured":"Koper-Lenkiewicz, O.M., Sutkowska, K., Wawrusiewicz-Kurylonek, N., Kowalewska, E., and Matowicka-Karna, J. (2022). Proinflammatory Cytokines (IL-1, -6, -8, -15, -17, -18, -23, TNF-\u03b1) Single Nucleotide Polymorphisms in Rheumatoid Arthritis-A Literature Review. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23042106"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"e23343","DOI":"10.1002\/jcla.23343","article-title":"Association between C-reactive protein gene variant and treatment efficacy of etanercept in ankylosing spondylitis patients receiving hip arthroplasty","volume":"34","author":"Xu","year":"2020","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1038\/gene.2015.24","article-title":"The role of genetic variants in CRP in radiographic severity in African Americans with early and established rheumatoid arthritis","volume":"16","author":"Danila","year":"2015","journal-title":"Genes. Immun."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"R214","DOI":"10.1186\/ar4052","article-title":"Correlation of C-reactive protein haplotypes with serum C-reactive protein level and response to anti-tumor necrosis factor therapy in UK rheumatoid arthritis patients: Results from the Biologics in Rheumatoid Arthritis Genetics and Genomics Study Syndica","volume":"14","author":"Plant","year":"2012","journal-title":"Arthritis Res. Ther."},{"key":"ref_122","doi-asserted-by":"crossref","unstructured":"Chen, W.C., Wei, J.C., Lu, H.F., Wong, H.S., Woon, P.Y., Hsu, Y.W., Huang, J.D., and Chang, W.C. (2017). rs657075 (CSF2) Is Associated with the Disease Phenotype (BAS-G) of Ankylosing Spondylitis. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18010083"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"e8234","DOI":"10.7717\/peerj.8234","article-title":"Genetic architecture study of rheumatoid arthritis and juvenile idiopathic arthritis","volume":"8","author":"Jia","year":"2020","journal-title":"PeerJ"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/ng.1005","article-title":"A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis","volume":"44","author":"Lin","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_125","doi-asserted-by":"crossref","unstructured":"Wu, X., Wang, G., Zhang, L., and Xu, H. (2021). Genetics of Ankylosing Spondylitis\u2014Focusing on the Ethnic Difference Between East Asia and Europe. Front. Genet., 12.","DOI":"10.3389\/fgene.2021.671682"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/annrheumdis-2018-214625","article-title":"Genetic association of non-MHC region with ankylosing spondylitis in a Chinese population","volume":"78","author":"Liu","year":"2019","journal-title":"Ann. Rheum. Dis."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1038\/ng.513","article-title":"Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci","volume":"42","author":"Reveille","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/s41419-022-04523-3","article-title":"Advances in the pathogenesis of psoriasis: From keratinocyte perspective","volume":"13","author":"Zhou","year":"2022","journal-title":"Cell Death Dis."},{"key":"ref_129","doi-asserted-by":"crossref","unstructured":"Antal, D., Alimohammadi, S., Bai, P., Sz\u00f6ll\u0151si, A.G., and Sz\u00e1nt\u00f3, M. (2022). Antigen-Presenting Cells in Psoriasis. Life, 12.","DOI":"10.3390\/life12020234"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1111\/exd.14424","article-title":"Clinical predictors of psoriatic arthritis and osteoclast differentiation","volume":"30","author":"Lembo","year":"2021","journal-title":"Exp. Dermatol."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1111\/exd.13676","article-title":"Inhibition of interleukin-12 and\/or interleukin-23 for the treatment of psoriasis: What is the evidence for an effect on malignancy?","volume":"27","author":"Ergen","year":"2018","journal-title":"Exp. Dermatol."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1038\/ng.3528","article-title":"Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci","volume":"48","author":"Ellinghaus","year":"2016","journal-title":"Nat. Genet."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/s41413-019-0057-8","article-title":"Ankylosing spondylitis: Etiology, pathogenesis, and treatments","volume":"7","author":"Zhu","year":"2019","journal-title":"Bone Res."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/cei.13020","article-title":"The interplay between HLA-B27 and ERAP1\/ERAP2 aminopeptidases: From anti-viral protection to spondyloarthritis","volume":"190","author":"Vitulano","year":"2017","journal-title":"Clin. Exp. Immunol."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"43","DOI":"10.5114\/ada.2021.104277","article-title":"The association of HLA-C and ERAP1 polymorphisms in early and late onset psoriasis and psoriatic arthritis patients of Hungary","volume":"38","author":"Keszthelyi","year":"2021","journal-title":"Adv. Dermatol. Allergol."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"2009","DOI":"10.1007\/s10067-016-3287-9","article-title":"Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: A meta-analysis","volume":"35","author":"Lee","year":"2016","journal-title":"Clin. Rheumatol."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"2208","DOI":"10.1136\/annrheumdis-2015-209059","article-title":"A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Beh\u00e7et\u2019s disease in HLA-B*51 carriers","volume":"75","author":"Takeuchi","year":"2016","journal-title":"Ann. Rheum. Dis."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1136\/annrheumdis-2014-206996","article-title":"Silencing or inhibition of endoplasmic reticulum aminopeptidase 1 (ERAP1) suppresses free heavy chain expression and Th17 responses in ankylosing spondylitis","volume":"75","author":"Chen","year":"2016","journal-title":"Ann. Rheum. Dis."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"6793","DOI":"10.1038\/ncomms7793","article-title":"Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis","volume":"6","author":"Zuo","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1038\/jid.2012.280","article-title":"Genetic association with ERAP1 in psoriasis is confined to disease onset after puberty and not dependent on HLA-C*06","volume":"133","author":"Lysell","year":"2013","journal-title":"J. Investig. Dermatol."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1073\/pnas.1618856114","article-title":"ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations","volume":"114","author":"Roberts","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_142","doi-asserted-by":"crossref","unstructured":"Ku\u015bnierczyk, P. (2022). To Be or Not to Be: The Case of Endoplasmic Reticulum Aminopeptidase 2. Front. Immunol., 13.","DOI":"10.3389\/fimmu.2022.902567"},{"key":"ref_143","doi-asserted-by":"crossref","unstructured":"Wu, X.A.-O., and Zhao, Z.A.-O.X. (2021). Associations between ERAP1 Gene Polymorphisms and Psoriasis Susceptibility: A Meta-Analysis of Case-Control Studies. BioMed Res. Int., 2021.","DOI":"10.1155\/2021\/5515868"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1038\/ng.873","article-title":"Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility","volume":"43","author":"Evans","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1016\/j.ajhg.2015.10.019","article-title":"Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture","volume":"97","author":"Stuart","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_146","doi-asserted-by":"crossref","unstructured":"Wen, Y.-F., Wei, J.C.-C., Hsu, Y.-W., Chiou, H.-Y., Wong, H.S.-C., Wong, R.-H., Ikegawa, S., and Chang, W.-C. (2014). rs10865331 Associated with Susceptibility and Disease Severity of Ankylosing Spondylitis in a Taiwanese Population. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0104525"},{"key":"ref_147","doi-asserted-by":"crossref","unstructured":"Ray-Jones, H., Duffus, K., McGovern, A., Martin, P., Shi, C., Hankinson, J., Gough, O., Yarwood, A., Morris, A.P., and Adamson, A. (2020). Mapping DNA interaction landscapes in psoriasis susceptibility loci highlights KLF4 as a target gene in 9q31. BMC Biol., 18.","DOI":"10.1186\/s12915-020-00779-3"},{"key":"ref_148","doi-asserted-by":"crossref","unstructured":"Cohen, C.J., Davidson, C., Selmi, C., Bowness, P., Knight, J.C., Wordsworth, B.P., and Vecellio, M. (2021). Disruption of c-MYC Binding and Chromosomal Looping Involving Genetic Variants Associated With Ankylosing Spondylitis Upstream of the RUNX3 Promoter. Front. Genet., 12.","DOI":"10.3389\/fgene.2021.741867"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"91","DOI":"10.3748\/wjg.v20.i1.91","article-title":"Inflammatory bowel disease: Pathogenesis","volume":"20","author":"Zhang","year":"2014","journal-title":"World J. Gastroenterol."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.suc.2019.08.001","article-title":"Inflammatory Bowel Disease Presentation and Diagnosis","volume":"99","author":"Flynn","year":"2019","journal-title":"Surg. Clin. N. Am."},{"key":"ref_151","doi-asserted-by":"crossref","unstructured":"Richardson, H., Yoon, G., Moussa, G., Kumar, A., and Harvey, P. (2024). Ocular Manifestations of IBD: Pathophysiology, Epidemiology, and Iatrogenic Associations of Emerging Treatment Strategies. Biomedicines, 12.","DOI":"10.3390\/biomedicines12122856"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.3748\/wjg.v25.i18.2162","article-title":"Inflammatory bowel diseases and spondyloarthropathies: From pathogenesis to treatment","volume":"25","author":"Fragoulis","year":"2019","journal-title":"World J. Gastroenterol."},{"key":"ref_153","first-page":"226","article-title":"Exploring the Link Between Ankylosing Spondylitis and Inflammatory Bowel Disease: A Retrospective Cohort Study","volume":"26","author":"Sharif","year":"2024","journal-title":"Isr. Med. Assoc. J. IMAJ"},{"key":"ref_154","doi-asserted-by":"crossref","unstructured":"Golestanifar, A., Masroor, A., Khedri, H., Zeini, S., and Nejatizadeh, A. (2025). Dysregulated Long Non-coding RNAs SNHG15 and OTUD6B-AS1 in Systemic Lupus Erythematosus: Insights from Bioinformatics Analysis and Experimental Validation. Biochem. Genet.","DOI":"10.1007\/s10528-025-11116-0"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"111288","DOI":"10.1016\/j.humimm.2025.111288","article-title":"Association of TNFAIP3 expression and gene polymorphisms with systemic lupus erythematosus susceptibility in the Chinese Han population","volume":"86","author":"Yang","year":"2025","journal-title":"Human Immunol."},{"key":"ref_156","doi-asserted-by":"crossref","unstructured":"Su, D.L., Lu, Z.M., Shen, M.N., Li, X., and Sun, L.Y. (2012). Roles of pro- and anti-inflammatory cytokines in the pathogenesis of SLE. J. Biomed. Biotechnol., 2012.","DOI":"10.1155\/2012\/347141"},{"key":"ref_157","doi-asserted-by":"crossref","unstructured":"Golfinopoulou, R., Giudicelli, V., Manso, T., and Kossida, S. (2023). Delving into Molecular Pathways: Analyzing the Mechanisms of Action of Monoclonal Antibodies Integrated in IMGT\/mAb-DB for Myasthenia Gravis. Vaccines, 11.","DOI":"10.20944\/preprints202310.0185.v1"},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"152692","DOI":"10.1016\/j.semarthrit.2025.152692","article-title":"Pathogenesis and targets in uveitis","volume":"72S","author":"Ramanan","year":"2025","journal-title":"Semin. Arthritis Rheum."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1136\/postgradmedj-2017-134891","article-title":"Uveitis: A sight-threatening disease which can impact all systems","volume":"93","author":"Krishna","year":"2017","journal-title":"Postgrad. Med. J."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/s41435-022-00168-6","article-title":"Progress in the genetics of uveitis","volume":"23","author":"Huang","year":"2022","journal-title":"Genes. Immun."},{"key":"ref_161","first-page":"1","article-title":"Multiple Sclerosis: Pathogenesis, Symptoms, Diagnoses and Cell-Based Therapy","volume":"19","author":"Ghasemi","year":"2017","journal-title":"Cell J."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"e2451071","DOI":"10.1002\/eji.202451071","article-title":"Illuminating the impact of gammadelta T cells in man and mice in spondylarthritides","volume":"54","author":"Meyer","year":"2024","journal-title":"Eur. J. Immunol."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"ii3","DOI":"10.1093\/ecco-jcc\/jjac034","article-title":"Interleukin-23 in the Pathogenesis of Inflammatory Bowel Disease and Implications for Therapeutic Intervention","volume":"16","author":"Sewell","year":"2022","journal-title":"J. Crohn\u2019s Colitis"},{"key":"ref_164","doi-asserted-by":"crossref","unstructured":"Vecellio, M., Hake, V.X., Davidson, C., Carena, M.C., Wordsworth, B.P., and Selmi, C. (2020). The IL-17\/IL-23 Axis and Its Genetic Contribution to Psoriatic Arthritis. Front. Immunol., 11.","DOI":"10.3389\/fimmu.2020.596086"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"112128","DOI":"10.1016\/j.celrep.2023.112128","article-title":"Interleukin-23 receptor signaling impairs the stability and function of colonic regulatory T cells","volume":"42","author":"Jacobse","year":"2023","journal-title":"Cell Rep."},{"key":"ref_166","doi-asserted-by":"crossref","unstructured":"Puca, P., Capobianco, I., Coppola, G., Di Vincenzo, F., Trapani, V., Petito, V., Laterza, L., Pugliese, D., Lopetuso, L.R., and Scaldaferri, F. (2024). Cellular and Molecular Determinants of Biologic Drugs Resistance and Therapeutic Failure in Inflammatory Bowel Disease. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms25052789"},{"key":"ref_167","doi-asserted-by":"crossref","unstructured":"Prieto-Perez, R., Almoguera, B., Cabaleiro, T., Hakonarson, H., and Abad-Santos, F. (2016). Association between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease. Int. J. Mol. Sci., 17.","DOI":"10.3390\/ijms17020225"},{"key":"ref_168","doi-asserted-by":"crossref","unstructured":"Einarsdottir, E., Koskinen, L.L., Dukes, E., Kainu, K., Suomela, S., Lappalainen, M., Ziberna, F., Korponay-Szabo, I.R., Kurppa, K., and Kaukinen, K. (2009). IL23R in the Swedish, Finnish, Hungarian and Italian populations: Association with IBD and psoriasis, and linkage to celiac disease. BMC Med. Genet., 10.","DOI":"10.1186\/1471-2350-10-8"},{"key":"ref_169","doi-asserted-by":"crossref","unstructured":"Meguro, A., Ishihara, M., Petrek, M., Yamamoto, K., Takeuchi, M., Mrazek, F., Kolek, V., Benicka, A., Yamane, T., and Shibuya, E. (2020). Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis. Commun. Biol., 3.","DOI":"10.1038\/s42003-020-01185-9"},{"key":"ref_170","doi-asserted-by":"crossref","unstructured":"Ostrowski, J., Paziewska, A., Lazowska, I., Ambrozkiewicz, F., Goryca, K., Kulecka, M., Rawa, T., Karczmarski, J., Dabrowska, M., and Zeber-Lubecka, N. (2016). Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population. Sci. Rep., 6.","DOI":"10.1038\/srep39831"},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1038\/ng.717","article-title":"Genome-wide meta-analysis increases to 71 the number of confirmed Crohn\u2019s disease susceptibility loci","volume":"42","author":"Franke","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_172","doi-asserted-by":"crossref","unstructured":"Disanto, G., Sandve, G.K., Berlanga-Taylor, A.J., Morahan, J.M., Dobson, R., Giovannoni, G., and Ramagopalan, S.V. (2012). Genomic regions associated with multiple sclerosis are active in B cells. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0032281"},{"key":"ref_173","doi-asserted-by":"crossref","unstructured":"Tang, J., Mo, S., Fan, L., Fu, S., and Liu, X. (2024). Causal association of gut microbiota on spondyloarthritis and its subtypes: A Mendelian randomization analysis. Front. Immunol., 15.","DOI":"10.3389\/fimmu.2024.1284466"},{"key":"ref_174","doi-asserted-by":"crossref","unstructured":"Xu, W.D., Xie, Q.B., Zhao, Y., and Liu, Y. (2015). Association of Interleukin-23 receptor gene polymorphisms with susceptibility to Crohn\u2019s disease: A meta-analysis. Sci. Rep., 5.","DOI":"10.1038\/srep18584"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1186\/s13075-017-1435-5","article-title":"Behcet\u2019s disease risk association fine-mapped on the IL23R-IL12RB2 intergenic region in Koreans","volume":"19","author":"Kang","year":"2017","journal-title":"Arthritis Res. Ther."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/s41584-021-00625-y","article-title":"Ankylosing spondylitis: An autoimmune or autoinflammatory disease?","volume":"17","author":"Mauro","year":"2021","journal-title":"Nat. Rev. Rheumatol."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1177\/1759720X09359728","article-title":"Anti-TNF Therapy in Ankylosing Spondylitis: Insights for the Clinician","volume":"2","author":"Coates","year":"2010","journal-title":"Ther. Adv. Musculoskelet. Dis."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/nyas.13933","article-title":"Targeting tumor necrosis factor receptors in ankylosing spondylitis","volume":"1442","author":"Lata","year":"2019","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/rheumatology\/kep422","article-title":"Predictors of response to anti-TNF therapy in ankylosing spondylitis: Results from the British Society for Rheumatology Biologics Register","volume":"49","author":"Lord","year":"2010","journal-title":"Rheumatology"},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1016\/S0140-6736(02)08215-6","article-title":"Treatment of active ankylosing spondylitis with infliximab: A randomised controlled multicentre trial","volume":"359","author":"Braun","year":"2002","journal-title":"Lancet"},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1186\/s13075-020-02208-w","article-title":"Efficacy and safety of IL-17 inhibitors for the treatment of ankylosing spondylitis: A systematic review and meta-analysis","volume":"22","author":"Yin","year":"2020","journal-title":"Arthritis Res. Ther."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/nrrheum.2014.207","article-title":"Gut dysbiosis in ankylosing spondylitis","volume":"11","author":"Barranco","year":"2015","journal-title":"Nat. Rev. Rheumatol."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1002\/cbdv.201400397","article-title":"The Gastrointestinal Tract Metabolism and Pharmacological Activities of Grosvenorine, a Major and Characteristic Flavonoid in the Fruits of Siraitia grosvenorii","volume":"12","author":"Wang","year":"2015","journal-title":"Chem. Biodivers."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1038\/s41588-020-0684-4","article-title":"Complex genetic signatures in immune cells underlie autoimmunity and inform therapy","volume":"52","author":"Orru","year":"2020","journal-title":"Nat. Genet."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.clim.2017.08.017","article-title":"Genetics of human autoimmunity: From genetic information to functional insights","volume":"186","author":"Ishigaki","year":"2018","journal-title":"Clin. Immunol."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s00281-021-00894-5","article-title":"Beyond GWAS: From simple associations to functional insights","volume":"44","author":"Ishigaki","year":"2022","journal-title":"Semin. Immunopathol."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/s41576-019-0127-1","article-title":"Benefits and limitations of genome-wide association studies","volume":"20","author":"Tam","year":"2019","journal-title":"Nat. Rev. Genet."},{"key":"ref_188","doi-asserted-by":"crossref","unstructured":"Schinocca, C., Rizzo, C., Fasano, S., Grasso, G., La Barbera, L., Ciccia, F., and Guggino, G. (2021). Role of the IL-23\/IL-17 Pathway in Rheumatic Diseases: An Overview. Front. Immunol., 12.","DOI":"10.3389\/fimmu.2021.637829"},{"key":"ref_189","doi-asserted-by":"crossref","unstructured":"Laurence, M., Asquith, M., and Rosenbaum, J.T. (2018). Spondyloarthritis, Acute Anterior Uveitis, and Fungi: Updating the Catterall-King Hypothesis. Front. Med., 5.","DOI":"10.3389\/fmed.2018.00080"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/11\/3677\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:39:31Z","timestamp":1760031571000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/11\/3677"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,23]]},"references-count":189,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["jcm14113677"],"URL":"https:\/\/doi.org\/10.3390\/jcm14113677","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,23]]}}}