Genetic Polymorphisms at TNF-Alpha Receptors Associated some Autoimmune Diseases and Response of Anti-TNF Biologics: Review
DOI:
https://doi.org/10.31351/vol33iss4pp49-58Abstract
Some genetic factors are not only involved in some autoimmune diseases but also interfere with their treatment, Such as Crohn's disease (CD), Rheumatoid Arthritis (RA), ankylosing spondylitis (AS), and psoriasis (PS). Tumor Necrosis Factor (TNF) is a most important pro-inflammatory cytokine, which has been recognized as a main factor that participates in the pathogenesis and development of autoimmune disorders. Therefore, TNF could be a prospective target for treating these disorders, and many anti-TNF were developed to treat these disorders.
Although the high efficacy of many anti-TNF biologic medications, the Patients' clinical responses to the autoimmune treatment showed significant heterogeneity.
Two types of TNF receptor (TNFR); 1 and 2, it classified into two superfamilies; TNF-superfamily of ligands (TNFSF) (19 ligands) and TNF receptor superfamily (TNFRSF) (29 receptors). This review aims to provide an overview of the impact of genetic polymorphism on TNF alpha receptors on the response to anti-TNF biologics.
Several single nucleotide polymorphisms (SNPs) recorded in the TNFRs gene on various immune system cells may affect the lower corresponding TNFRs gene expression. The present review summarized the studies that highlighted the role of heterogeneity in varying the response of patients. Many researchers indicated SNPs' effect on the response of autoimmune patients to treatment with anti-TNF biologic medications, while other studies did not find a correlation. In conclusion, TNF is involved in several diseases such as CD, RA, AS, and PS; there was a link between TNFRs polymorphism and non-responsiveness to anti-TNF-α medications.
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References
Carswell E, Old LJ, Kassel R, Green S, Fiore N, Williamson B. An endotoxin-induced serum factor that causes necrosis of tumors. Proceedings Nat Academy Sci 1975;72:3666-70.
Adegbola SO, Sahnan K, Warusavitarne J, Hart A, Tozer P. Anti-TNF therapy in Crohn’s disease. Int J Mol Sci 2018;31;19:2244.
Moelants EA, Mortier A, Van Damme J, Proost P. Regulation of TNF‐α with a focus on rheumatoid arthritis. Immunology and cell biology. 2013;91(6):393-401.
Coates LC, Marzo-Ortega H, Bennett AN, Emery P. Anti-TNF therapy in ankylosing spondylitis: insights for the clinician. Therapeutic Adv Musculoskeletal Disease 2010;2(1):37-43.
Grine L, Dejager L, Libert C, Vandenbroucke RE. An inflammatory triangle in psoriasis: TNF, type I IFNs and IL-17. Cytokine & growth factor reviews. 2015 1;26(1):25-33.
Das SS, Singh SK, Verma PR, Jha NK, Gupta PK, Dua K. Mitigating inflammation using advanced drug delivery by targeting TNF-α in lung diseases. Future Medicinal Chemistry. 2022;14(2):57-60.
Grell M, Douni E, Wajant H, Löhden M, Clauss M, Maxeiner B, Georgopoulos S, Lesslauer W, Kollias G, Pfizenmaier K, Scheurich P. The transmembrane form of tumor necrosis factor is the prime activating ligand of the 80 kDa tumor necrosis factor receptor. Cell. 1995;83:793-802.
Eissner G, Kolch W, Scheurich P. Ligands working as receptors: reverse signaling by members of the TNF superfamily enhance the plasticity of the immune system. Cytokine & Growth Factor Rev 2004;15:353-66.
Black RA, Rauch CT, Kozlosky CJ, Peschon JJ, Slack JL, Wolfson MF, Castner BJ, Stocking KL, Reddy P, Srinivasan S, Nelson N. A metalloproteinase disintegrin that releases tumour-necrosis factor-α from cells. Nature 1997;385:729-33.
Bodmer JL, Schneider P, Tschopp J. The molecular architecture of the TNF superfamily. Trends Biochem Sci 2002;27:19-26.
Locksley RM, Killeen N, Lenardo MJ. The TNF and TNF receptor superfamilies: integrating mammalian biology. Cell 2001;104:487-501.
Faustman D, Davis M. TNF receptor 2 pathway: drug target for autoimmune diseases. Natr Rev Drug Discovery 2010;9:482-93.
Carpentier I, Coornaert B, Beyaert R. Function and regulation of tumor necrosis factor receptor type 2. Current Medicinal Chem 2004;11:2205-12.
Tartaglia LA, Weber RF, Figari IS, Reynolds C, Palladino Jr MA, Goeddel DV. The two different receptors for tumor necrosis factor mediate distinct cellular responses. Proceedings of the Nat Academy Sci 1991;88:9292-6.
Pimentel-Muiños FX, Seed B. Regulated commitment of TNF receptor signaling: a molecular switch for death or activation. Immun 1999;11:783-93.
Sessler T, Healy S, Samali A, Szegezdi E. Structural determinants of DISC function: new insights into death receptor-mediated apoptosis signalling. Pharmacol Therapeutics. 2013;140:186-99.
Hayden MS, Ghosh S. Regulation of NF-κB by TNF family cytokines. InSeminars in immunology 2014; 26:253-266.
Parameswaran N, Patial S. Tumor necrosis factor-α signaling in macrophages. Critical Reviews™ in Eukaryotic Gene Exp 2010;20:87-103.
Pobezinskaya YL, Liu Z. The role of TRADD in death receptor signaling. Cell Cycle 2012;11:871-6.
Pasparakis M, Vandenabeele P. Necroptosis and its role in inflammation. Natr 2015;517:311-20.
Brenner D, Blaser H, Mak TW. Regulation of tumour necrosis factor signalling: live or let die. Nature Reviews Immunol 2015;15:362-74.
Duprez L, Bertrand MJ, Berghe TV, Dondelinger Y, Festjens N, Vandenabeele P. Intermediate domain of receptor-interacting protein kinase 1 (RIPK1) determines switch between necroptosis and RIPK1 kinase-dependent apoptosis. Journal of Biological Chemistry. 2012;287(18):14863-72.
Holbrook J, Lara-Reyna S, Jarosz-Griffiths H, McDermott MF. Tumour necrosis factor signalling in health and disease. F1000Res 2019;8:111.
Li J, McQuade T, Siemer AB, Napetschnig J, Moriwaki K, Hsiao YS, Damko E, Moquin D, Walz T, McDermott A, Chan FK. The RIP1/RIP3 necrosome forms a functional amyloid signaling complex required for programmed necrosis. Cell. 2012;150:339-50
Billmeier U, Dieterich W, Neurath MF, Atreya R. Molecular mechanism of action of anti-tumor necrosis factor antibodies in inflammatory bowel diseases. World journal of gastroenterology. 2016;22:9300.
Kivelevitch D, Mansouri B, Menter A. Long term efficacy and safety of etanercept in the treatment of psoriasis and psoriatic arthritis. Biologics: Targets and Therapy. 2014;169-82.
Colombel JF, Sandborn WJ, Reinisch W, Mantzaris GJ, Kornbluth A, Rachmilewitz D, Lichtiger S, d'Haens G, Diamond RH, Broussard DL, Tang KL. Infliximab, azathioprine, or combination therapy for Crohn's disease. New England journal of medicine. 2010;362:1383-95.
Croft M, Benedict CA, Ware CF. Clinical targeting of the TNF and TNFR superfamilies. Natr Rev Drug Discovery 2013;12:147-68.
Sode J, Vogel U, Bank S, Andersen PS, Hetland ML, Locht H, Heegaard NH, Andersen V. Genetic variations in pattern recognition receptor loci are associated with anti-TNF response in patients with rheumatoid arthritis. PloS one. 2015;10:e0139781.
Troskot B, Šimunić M. Side effects and contraindications for biological therapy in inflammatory bowel disease. Acta Med Croatica: Časopis Akademije Medicinskih Znanosti Hrvatske. 2013;67:131-43.
Conti A, Esposito I, Lasagni C, Miglietta R, Padalino C, Fabiano A, Pellacani G. Monoclonal gammopathy of undetermined significance in patients with psoriasis: is it really a side effect of biological therapy?. Drug Develop Res 2014;75:S35-7.
Zippi M, Pica R, De Nitto D, Paoluzi P. Biological therapy for dermatological manifestations of inflammatory bowel disease. World Journal of Clinical Cases: WJCC. 2013;1:74.
Prajapati R, Plant D, Barton A. Genetic and genomic predictors of anti-TNF response. Pharmacogenomics 2011;12:1571-85.
Mitoma H, Horiuchi T, Tsukamoto H, Ueda N. Molecular mechanisms of action of anti-TNF-α agents–Comparison among therapeutic TNF-α antagonists. Cytokine. 2018;101:56-63.
Marotte H, Cimaz R. Etanercept–TNF receptor and IgG1 Fc fusion protein: is it different from other TNF blockers?. Expert Opinion on Biological Therapy. 2014;14(5):569-72.
Wajant H, Siegmund D. TNFR1 and TNFR2 in the Control of the Life and Death Balance of Macrophages. Frontiers Cell Develop Biol 2019;7:91.
Ware CF. Protein therapeutics targeted at the TNF superfamily. Adv Pharmacol 2013;66:51-80.
Torii H, Nakagawa H, Japanese Infliximab Study Investigators. Long‐term study of infliximab in Japanese patients with plaque psoriasis, psoriatic arthritis, pustular psoriasis and psoriatic erythroderma. The Journal of dermatology. 2011;38:321-34.
González-Lara L, Batalla A, Coto E, Gómez J, Eiris N, Santos-Juanes J, Queiro R, Coto-Segura P. The TNFRSF1B rs1061622 polymorphism (p. M196R) is associated with biological drug outcome in Psoriasis patients. Arch Dermatol Res 2015;307:405-12.
Roda G, Jharap B, Neeraj N, Colombel JF. Loss of response to anti-TNFs: definition, epidemiology, and management. Clinic Trans Gastroenterol 2016;7:e135.
Katsanos KH, Papamichael K, Feuerstein JD, Christodoulou DK, Cheifetz AS. Biological therapies in inflammatory bowel disease: Beyond anti-TNF therapies. Clinic Immunol 2019;206:9-14.
Linares-Pineda TM, Cañadas-Garre M, Sanchez-Pozo A, Calleja-Hernández MÁ. Pharmacogenetic biomarkers of response in Crohn’s disease. Pharmacogenomics J 2018;18:1-3.
Chen W, Xu H, Wang X, Gu J, Xiong H, Shi Y. The tumor necrosis factor receptor superfamily member 1B polymorphisms predict response to anti-TNF therapy in patients with autoimmune disease: A meta-analysis. Int Immunopharmacol 2015;28:146-53.
Ruddle NH. Lymphotoxin and TNF: how it all began—a tribute to the travelers. Cytokine & growth factor reviews. 2014 1;25:83-9.
Udommethaporn S, Tencomnao T, McGowan EM, Boonyaratanakornkit V. Assessment of anti-TNF-α activities in keratinocytes expressing inducible TNF-α: a novel tool for anti-TNF-α drug screening. PloS One. 2016;11:e0159151.
Pillai JA, Bebek G, Khrestian M, Bena J, Bergmann CC, Bush WS, Leverenz JB, Bekris LM. TNFRSF1B gene variants and related soluble TNFR2 levels impact resilience in Alzheimer's disease. Frontiers in aging neuroscience. 2021;13:638922
Xu F, Zhou G, Han S, Yuan W, Chen S, Fu Z, Li D, Zhang H, Li D, Pang D. Association of TNF-α, TNFRSF1A and TNFRSF1B gene polymorphisms with the risk of sporadic breast cancer in northeast Chinese Han women. PLoS One. 2014;9:e101138.
Suchanek-Raif R, Raif P, Kowalczyk M, Paul-Samojedny M, Kucia K, Merk W, Kowalski J. Polymorphic variants of TNFR2 gene in schizophrenia and its interaction with-308G/A TNF-α gene polymorphism. Mediators of Inflammation. 2018;2018.
Aita A, Basso D, Ramonda R, Moz S, Lorenzin M, Navaglia F, Zambon CF, Padoan A, Plebani M, Punzi L. Genetics in TNF-TNFR pathway: A complex network causing spondyloarthritis and conditioning response to anti-TNFα therapy. PLoS One 2018; 26;13:e0194693.
Sennikov SV, Vasilyev FF, Lopatnikova JA, Shkaruba NS, Silkov AN. Polymorphisms in the tumor necrosis factor receptor genes affect the expression levels of membrane-bound type I and type II receptors. Mediators Inflam 2014;2014:1-11.
Wang GB, Li CR, Yang J, Wen PQ, Jia SL. A regulatory polymorphism in promoter region of TNFR1 gene is associated with Kawasaki disease in Chinese individuals. Human immunology. 2011;72(5):451-7.
Sennikov SV, Alshevskaya AA, Shkaruba NS, Chumasova OA, Sizikov AE, Lopatnikova JA. Expression of TNFα membrane-bound receptors in the peripheral blood mononuclear cells (PMBC) in rheumatoid arthritis patients. Cytokine 2015;73:288-94.
Gough P, Myles IA. Tumor necrosis factor receptors: pleiotropic signaling complexes and their differential effects. Frontiers in immunology. 2020;11:585880.
Sainz J, Salas-Alvarado I, Lopez-Fernandez E, Olmedo C, Comino A, Garcia F, Blanco A, Gomez-Lopera S, Oyonarte S, Bueno P, Jurado M. TNFR1 mRNA expression level and TNFR1 gene polymorphisms are predictive markers for susceptibility to develop invasive pulmonary aspergillosis. Int J Immunopathol Pharmacol 2010;23:423-36.
Ueda N, Tsukamoto H, Mitoma H, Ayano M, Tanaka A, Ohta SI, Inoue Y, Arinobu Y, Niiro H, Akashi K, Horiuchi T. The cytotoxic effects of certolizumab pegol and golimumab mediated by transmembrane tumor necrosis factor α. Inflammatory bowel diseases. 2013;19:1224-31.
Levin AD, Wildenberg ME, van den Brink GR. Mechanism of action of anti-TNF therapy in inflammatory bowel disease. Journal of Crohn's and Colitis. 2016;10:989-97.
Atreya R, Zimmer M, Bartsch B, Waldner MJ, Atreya I, Neumann H, Hildner K, Hoffman A, Kiesslich R, Rink AD, Rau TT. Antibodies against tumor necrosis factor (TNF) induce T-cell apoptosis in patients with inflammatory bowel diseases via TNF receptor 2 and intestinal CD14+ macrophages. Gastroenterology. 2011;141:2026-38.
Morales-Lara MJ, Cañete JD, Torres-Moreno D, Hernández MV, Pedrero F, Celis R, García-Simón MS, Conesa-Zamora P. Effects of polymorphisms in TRAILR1 and TNFR1A on the response to anti-TNF therapies in patients with rheumatoid and psoriatic arthritis. Joint Bone Spine. 2012;79:591-6.
Kalliolias GD, Ivashkiv LB. TNF biology, pathogenic mechanisms and emerging therapeutic strategies. Nature reviews rheumatology. 2016;12(1):49-62.
Swierkot J, Bogunia-Kubik K, Nowak B, Bialowas K, Korman L, Gebura K, Kolossa K, Jeka S, Wiland P. Analysis of associations between polymorphisms within genes coding for tumour necrosis factor (TNF)-alpha and TNF receptors and responsiveness to TNF-alpha blockers in patients with rheumatoid arthritis. Joint Bone Spine. 2015;82:94-9.
Canet LM, Filipescu I, Cáliz R, Lupiañez CB, Canhão H, Escudero A, Segura-Catena J, Soto-Pino MJ, Ferrer MA, García A, Romani L. Genetic variants within the TNFRSF1B gene and susceptibility to rheumatoid arthritis and response to anti-TNF drugs: a multicenter study. Pharmacogenetics Genomics 2015;25:323-33.
Pallio G, Mannino F, Irrera N, Eid AH, Squadrito F, Bitto A. Polymorphisms involved in response to biological agents used in rheumatoid arthritis. Biomol 2020;10:1203.
Pers YM, Cadart D, Rittore C, Ravel P, Daïen V, Fabre S, Jorgensen C, Touitou I. TNFRII polymorphism is associated with response to TNF blockers in rheumatoid arthritis patients seronegative for ACPA. Joint Bone Spine. 2014 Jul 1;81(4):370-2.
Qasem A, Ramesh S, Naser SA. Genetic polymorphisms in tumour necrosis factor receptors (TNFRSF1A/1B) illustrate differential treatment response to TNFα inhibitors in patients with Crohn’s disease. BMJ Open Gastroenterol 2019;6:e000246.
Cao BL, Qasem A, Sharp RC, Abdelli LS, Naser SA. Systematic review and meta-analysis on the association of tuberculosis in Crohn’s disease patients treated with tumor necrosis factor-α inhibitors (Anti-TNFα). World J Gastroenterol 2018;24:2764.
Medrano LM, Taxonera C, Márquez A, Barreiro-de Acosta M, Gómez-García M, González-Artacho C, Pérez-Calle JL, Bermejo F, Lopez-Sanromán A, Arranz MM, Gisbert JP. Role of TNFRSF1B polymorphisms in the response of Crohn’s disease patients to infliximab. Human Immunol 2014;75:71-5.
Iannone LF, Bennardo L, Palleria C, Roberti R, De Sarro C, Naturale MD, Dastoli S, Donato L, Manti A, Valenti G, D’Amico D. Safety profile of biologic drugs for psoriasis in clinical practice: An Italian Prospective Pharmacovigilance Study. Plos One. 2020;15:e0241575.
Armstrong AW, Puig L, Joshi A, Skup M, Williams D, Li J, Betts KA, Augustin M. Comparison of biologics and oral treatments for plaque psoriasis: a meta-analysis. JAMA Dermatol 2020;156:258-69.
Vasilopoulos Y, Manolika M, Zafiriou E, Sarafidou T, Bagiatis V, Krüger-Krasagaki S, Tosca A, Patsatsi A, Sotiriadis D, Mamuris Z, Roussaki-Schulze A. Pharmacogenetic analysis of TNF, TNFRSF1A, and TNFRSF1B gene polymorphisms and prediction of response to anti-TNF therapy in psoriasis patients in the Greek population. Mol Diagnosis Therapy. 2012;16:29-34.
Chen L, Li J, Zhu W, Kuang Y, Liu T, Zhang W, Chen X, Peng C. Skin and gut microbiome in psoriasis: gaining insight into the pathophysiology of it and finding novel therapeutic strategies. Frontiers Microbiol 2020;11:589726.
Brown MA, Wordsworth BP. Genetics in ankylosing spondylitis–current state of the art and translation into clinical outcomes. Best Practice & Research Clinical Rheumatology. 2017;31:763-76.
Khan MA. Ankylosing spondylitis: introductory comments on its diagnosis and treatment. Annals of the rheumatic diseases. 2002;61:iii3-7.
Weisman MH. Inflammatory back pain: the United States perspective. Rheumatic Disease Clinics. 2012;38:501-12.
Gouveia EB, Elmann D, Morales MS. Espondilite anquilosante e uveíte: revisão. Revista brasileira de reumatologia. 2012;52:749-56.
Jose FA, Heyman MB. Extraintestinal manifestations of inflammatory bowel disease. Journal of pediatric gastroenterology and nutrition. 2008;46:124.
Mercieca C, van der Horst-Bruinsma IE, Borg AA. Pulmonary, renal and neurological comorbidities in patients with ankylosing spondylitis; implications for clinical practice. Current rheumatology reports. 2014;16:1-0.
Aita A, Basso D, Ramonda R, Moz S, Lorenzin M, Navaglia F, Zambon CF, Padoan A, Plebani M, Punzi L. Genetics in TNF-TNFR pathway: A complex network causing spondyloarthritis and conditioning response to anti-TNFα therapy. PLoS One. 2018 Mar 26;13:e0194693.
Tong Q, Zhao DB, Bajracharya P, Xu X, Kong RN, Zhang J, Dai SM, Cai Q. TNF-α-857 and-1031 polymorphisms predict good therapeutic response to TNF-α blockers in Chinese Han patients with ankylosing spondylitis. Pharmacogenomics. 2012 Oct;13:1459-67.
Corona-Sanchez EG, Muñoz-Valle JF, Gonzalez-Lopez L, Sanchez-Hernandez JD, Vazquez-Del Mercado M, Ontiveros-Mercado H, Huerta M, Trujillo X, Rocha-Muñoz AD, Celis A, Ortega-Flores R. − 383 A/C tumor necrosis factor receptor 1 polymorphism and ankylosing spondylitis in Mexicans: a preliminary study. Rheumatology international. 2012;32:2565-8.
Glossop JR, Nixon NB, Dawes PT, Hassell AB, Mattey DL. No association of polymorphisms in the tumor necrosis factor receptor I and receptor II genes with disease severity in rheumatoid arthritis. The Journal of rheumatology. 2003;30(7):1406-9.
Durán-Avelar MD, Gutiérrez-Franco J, Vibanco-Pérez N, Trejo-Ramírez FD, Peña-Virgen S, Zambrano-Zaragoza JF. T676G polymorphism of the TNF receptor type II is associated with ankylosing spondylitis. 15th International Congress of Immunology (ICI). 2013.
Mordovskii V, Semenchukov A, Nikulina SY, Salmina AB, Chernova A, Kapustina E, Kents A, Ohapkina A, Moskaleva E, Maltese PE, Convertini P. TNFR1-383 A˃ C polymorphism and ankylosing spondylitis in a Russian Caucasian population: a preliminary study. Genet Mol Res. 2017;30.
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