Polymorphic markers of certain genes in the development of dry keratoconjunctivitis in patients with rheumatoid arthritis and Sjogren’s syndrome

Safonova T.N.; Zaitseva G.V.; Burdennyy A.M.

doi:https://doi.org/10.17116/oftalma2019135052254

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Abstract:

The article reviews literature on relationships between polymorphic variants of the genes THBS1, GTF2I, MUC1, TRIM21, STAT4, PTPN22 with clinical features of dry keratoconjunctivitis in rheumatoid arthritis and Sjogren’s syndrome. The development and implementation of a method for analyzing polymorphic gene variants used to diagnose dry keratoconjunctivitis in rheumatoid arthritis and Sjogren’s syndrome will allow assessment of the possibility of developing dry keratoconjunctivitis and/or its progression in patients with autoimmune diseases or in people at risk. Determination of clinical and morphological regularities of dry keratoconjunctivitis in accordance with the revealed molecular and genetic changes will contribute to better understanding of the etiology and pathogenesis of ophthalmological manifestations of autoimmune diseases, and will also help improve the diagnostics and prognosis of dry keratoconjunctivitis.

Keywords:

Sjogren’s syndrome

rheumatoid arthritis

dry keratoconjunctivitis

genes THBS1

GTF2I

MUC1

TRIM21

STAT4

PTPN22

Authors:

Safonova T.N.

FGBU "NII glaznykh bolezneĭ" RAMN, Moskva

Zaitseva G.V.

Research Institute of Eye Diseases, 11 A, B Rossolimo St., Moscow, Russian Federation, 119021

Burdennyy A.M.

Institute of General Pathology and Pathophysiology, 8 Baltiiskaya St., Moscow, Russian Federation, 125315

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References:

Safonova TN, Vasil’ev VI, Lihvanceva VG. Sindrom Shegrena. M.: Izdatel’stvo Moskovskogo Universiteta; 2013. (In Russ.)
Sinyachenko OV, Pavlyuchenko AK, Lukashenko LV, Gonchar GA. Rheumatoid arthritis and ophthalmopathy. Ukrainskii revmatologicheskii zhurnal. 2012;50(4):1-5. (In Russ.)
Nasonov EL. Why is early diagnosis and treatment of rheumatoid arthritis necessary? Rossiiskii meditsinskii zhurnal. 2002;10(22):1009-1012. (In Russ.)
Pugh RE, Bitter MA, Shpall EJ, Hami LS, Wolf DM, Franklin WAJ Hematother. CD19 selection improves the sensitivity of B cell lymphoma detection. J Hematother. 1998;7(2):159-168. https://doi.org/10.1089/scd.1.1998.7.159
Korshunov NI. Rheumatoid arthritis: diagnosis and treatment. Rossiiskii meditsinskii zhurnal. 2005;14:956. (In Russ.)
Lee SY, Chung WT, Jung WJ et al. Retrospective study on the effects of immunosuppressive therapy in uveitis associated with rheumatic diseases in Korea. Rheumatol Int. 2011;24(12):77-83.
Rosenbaum JT, Rosenzweig HL. Spondyloarthritis: the eyes have it: uveitis in patients with spondyloarthritis. Nat Rev Rheumatol. 2012;8(5):249-250. https://doi.org/10.1038/nrrheum.2012.43
El Maghraoui A. Extra-articular manifestations of ankylosing spondylitis: prevalence, characteristics and therapeutic implications. Eur J Intern Med. 2011;22(6):554-560. https://doi.org/10.1016/j.ejim.2011.06.006
Morović-Vergles J, Culo MI. Extra-articular manifestations of seronegative spondyloarthritides. Reumatizam. 2011;58(2):54-56.
Kaliterna DM. Spondyloarthritides — clinical features. Reumatizam. 2011;58(2):51-53.
Zurutuza A, Andonegui J, Berástegui L et al. Bilateral posterior scleritis. An Sist Sanit Navar. 2011;34(2):313-315.
Wabe NT, Sorich MJ, Wechalekar MD, Cleland LG, McWilliams L, Lee AT, Spargo LD, Metcalf RG, Hall C, Proudman SM, Wiese MD. Effect of Adherence to Protocolized Targeted Intensifications of Disease-modifying Antirheumatic Drugs on Treatment Outcomes in Rheumatoid Arthritis: Results from an Australian Early Arthritis Cohort. J Rheumatol. 2016;43(9):1643-1649. https://doi.org/10.3899/jrheum.151392
Hennessy AL, Katz J, Covert D et al. A video study of drop instillation in both glaucoma and retina patients with visual impairment. Am J Ophthalmol. 2011;152(6):982-988. https://doi.org/10.1016/j.ajo.2011.05.015
Zlatanović G, Veselinović D, Cekić S et al. Ocular manifestation of rheumatoid arthritis-different forms and frequency. Bosn J Basic Med Sci. 2010;10(4):323-327. https://doi.org/10.17305/bjbms.2010.2680
Rosenbaum JT, Russell AS, Guenther LC et al. The influence of uveitis on patients with immune-mediated inflammatory disease. J Rheumatol. 2011;88:26-30. https://doi.org/10.3899/jrheum.110907
Safonova TN, Zaitseva GV. Molecular genetic examination for dry eye syndrome prognosis. Vestnik oftal’mologii. 2018;134(3):108-115. (In Russ.) https://doi.org/10.17116/oftalma20181343108
Utine C, EnginDurmaz C, Koak N. Corneal matrix repair therapy with the regenerating agent in neurotrophic persistent epithelial defects. Int J Ophthalmol. 2017;18(12):1935-1939. https://doi.org/10.18240/ijo.2017.12.25
Raychaudhuri S, Sandor C, Stahl EA. Freudenberg J, Lee HS, Jia X, Alfredsson L, Padyukov L, Klareskog L, Worthington J, Siminovitch KA, Bae SC, Plenge RM, Gregersen PK, de Bakker PI. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet. 2012;44(3):291-296. https://doi.org/10.1038/ng.1076
Levitt AE, McManus KT, McClellan AL, Davis JL, Goldhardt R, Galor A. Cornea. 2015;34(7):762-767. https://doi.org/10.1097/ICO.0000000000000437
Guo X, Hutcheon AE, Zieske JD. Molecular insights on the effect of TGF-β1/-β3 in human corneal fibroblasts. Exp Eye Res. 2016;146:233-241. https://doi.org/10.1016/j.exer.2016.03.011
Contreras-Ruiz L, Ryan DS, Sia RK, Bower KS, Dartt DA, Masli S. Polymorphism in THBS1 gene is associated with post-refractive surgery chronic ocular surface inflammation. Ophthalmology. 2014;121(7):1389-1397. https://doi.org/10.1016/j.ophtha.2014.01.033
Kim K, Bang SY, Ikari K, Yoo DH, Cho SK, Choi CB, Sung YK, Kim TH, Jun JB, Kang YM, Suh CH, Shim SC, Lee SS, Lee J. Association-heterogeneity mapping identifies an Asian-specific association of the GTF2I locus with rheumatoid arthritis. Sci Rep. 2016;8(6):27563. https://doi.org/10.1038/srep27563
Zheng J, Huang R, Huang Q, Deng F, Chen Y, Yin J, Chen J, Wang Y, Shi G, Gao X, Liu Z, Petersen F, Yu X. The GTF2I rs117026326 polymorphism is associated with anti-SSA-positive primary Sjögren’s syndrome. Rheumatology (Oxford). 2015;54(3):562-564. https://doi.org/10.1093/rheumatology/keu466
Dittrich A, Gautrey H, Browell D, Tyson-Capper A. The HER2 Signaling Network in Breast Cancer-Like a Spider in its Web. J Mammary Gland Biol Neoplasia. 2014;19(3-4):253-270. https://doi.org/10.1007/s10911-014-9329-5
Imbert Y1, Foulks GN, Brennan MD, Jumblatt MM, John G, Shah HA, Newton C, Pouranfar F, Young WW Jr. MUC1 and estrogen receptor alpha gene polymorphisms in dry eye patients. Exp Eye Res. 2009;88(3):334-338. https://doi.org/10.1016/j.exer.2008.05.019
Ferro F, Vagelli R, Bruni C, Cafaro G, Marcucci E, Bartoloni E, BaldiniC. One year in review 2016: Sjögren’s syndrome. Clinical and Experimental Rheumatology. 2016;34:161-171.
Al-Majdoub M, Koy C, Lorenz P, Thiesen HJ, Glocker MO. Mass spectrometric and peptide chip characterization of an assembled epitope: analysis of a polyclonal antibody model serum directed against the Sjögren/systemic lupus erythematosus autoantigen TRIM21. J Mass Spectrom. 2013;48(6):651-659. https://doi.org/10.1002/jms.3208
Wolska N, Rybakowska P, Rasmussen A, Brown M, Montgomery C, Klopocki A, Grundahl K, Scofield RH, Radfar L, Stone DU, Anaya JM, Ice JA, Lessard CJ, Lewis DM, Rhodus NL, Gopalakrishnan R, Huang AJ, Hughes PJ, Rohrer MD, Weisman MH, Venuturupalli S, Guthridge JM, James JA, Sivils KL, Bagavant H, Deshmukh US. Brief Report: Patients With Primary Sjögren’s Syndrome Who Are Positive for Autoantibodies to Tripartite Motif-Containing Protein 38 Show Greater Disease Severity. Arthritis Rheumatol. 2016;68(3):724-729.
Tong G, Zhang X, Tong W, Liu Y. Association between polymorphism in STAT4 gene and risk of rheumatoid arthritis: a meta-analysis. Hum Immunol. 2013;74(5):586-592. https://doi.org/10.1016/j.humimm.2012.11.033
Gestermann N, Mekinian A, Comets E, Loiseau P, Puechal X, Hachulla E, Gottenberg JE, Mariette X. STAT4 is a confirmed genetic risk factor for Sjögren’s syndrome and could be involved in type 1 interferon pathway signaling. Genes Immun. 2010;11(5):432-438. https://doi.org/10.1038/gene.2010.29
Korman BD, Alba MI, Le JM, Alevizos I, Smith JA, Nikolov NP, Kastner DL, Remmers EF and Illei GG. Variant form of STAT4 is associated with primary Sjo¨gren’s syndrome. Genes and Immunity. 2008;9:267-270. https://doi.org/10.1038/gene.2008.1
Begovich A, Carlton VE, Honigberg LA, et al. A missense singlenucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet. 2004;75:330-337. https://doi.org/10.1086/422827
Plenge RM, Padyukov L, Remmers EF et al. Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet. 2005;77(6):1044-1060. https://doi.org/10.1086/498651
Vang T, Congia M, Macis MD, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet. 2005;37:1317-1319. https://doi.org/10.1038/ng1673
Yu X, Sun JP, He Y, Guo X, Liu S, Zhou B, Hudmon A, Zhang ZY. Structure, inhibitor, and regulatory mechanism of Lyp, a lymphoid-specific tyrosine phosphatase implicated in autoimmune diseases. Proc Natl Acad Sci USA. 2007;104(50):19767-19772.
Menard L, Saadoun D, Isnardi I, Ng YS, Meyers G, Massad C, Price C, Abraham C, Motaghedi R, Buckner JH, Gregersen PK, Meffre E. The PTPN22 allele encoding an R620W variant interferes with the removal of developing autoreactive B cells in humans. J Clin Invest. 2011;121(9):3635-3644. https://doi.org/10.1172/JCI45790
Ronninger M, Guo Y, Shchetynsky K, Hill A, Khademi M, Olsson T, Reddy PS, Seddighzadeh M, Clark JD, Lin LL, O’Toole M, Padyukov L. The balance of expression of PTPN22 splice forms is significantly different in rheumatoid arthritis patients compared with controls. Genome Med. 2012;4(1):2. https://doi.org/10.1186/gm301
Chang HH, Tai TS, Lu B, Iannaccone C, Cernadas M, Weinblatt M, Shadick N, Miaw SC, Ho IC.PTPN22.6, a dominant negative isoform of PTPN22 and potential biomarker of rheumatoid arthritis. PLoS One. 2012;7(3):330-367. https://doi.org/10.1371/journal.pone.0033067
Hinks A, Eyre S, Barton A, Thomson W, Worthington J. Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. Ann Rheum Dis. 2007;66(5):683-686. https://doi.org/10.1136/ard.2006.060459
Wan Taib WR, Smyth DJ, Merriman ME, Dalbeth N, Gow PJ, Harrison AA, Highton J, Jones PB, Stamp L, Steer S, Todd JA, Merriman TR. The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Trp. PLoS One. 2010;5(10):135-144. https://doi.org/10.1371/journal.pone.0013544
Martín JE, Alizadeh BZ, González-Gay MA, Balsa A, Pascual-Salcedo D, González-Escribano MF, Rodriguez-Rodriguez L, Fernández-Gutiérrez B, Raya E, Coenen MJ, van Riel P, Radstake TR, Kvien TK, Viken MK, Lie BA, Koeleman BP, Martín J. Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in the 1p13.2 region. J Rheumatol. 2011;38(1):2290-2296. https://doi.org/10.3899/jrheum.110361
Jagiello P, Aries P, Arning L, Wagenleiter SE, Csernok E, Hellmich B, Gross WL, Epplen JT. The PTPN22 620W allele is a risk factor for Wegener’s granulomatosis. Arthritis Rheum. 2005;52(12):4039-4043. https://doi.org/10.1002/art.21487