The Role of Polymorphic Markers rs1478604 , rs2292305 , and rs2228262 in THBS1 Gene in the Development of Autoimmune Dry
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Bulletin of Experimental Biology and Medicine, Vol. 169, No. 5, September, 2020 MORPHOLOGY AND PATHOMORPHOLOGY
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The Role of Polymorphic Markers rs1478604, rs2292305, and rs2228262 in THBS1 Gene in the Development of Autoimmune Dry Eye Syndrome T. N. Safonova1, Z. V. Surnina1, G. V. Zaitseva1, A. M. Burdennyi2, and V. I. Loginov2
Translated from Byulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 169, No. 5, pp. 640-643, May, 2020 Original article submitted December 24, 2019 An association of polymorphic marker rs2228262 in the THBS1 gene with the risk of developing dry eye in Sjögren syndrome was revealed. Confocal microscopy data suggest that this polymorphic marker is responsible for the high probability of corneal nerve fiber lesion in Sjögren syndrome even in the absence of clinical and functional signs of dry eye syndrome. A significant correlation was established between polymorphic markers rs1478604, rs2228262 in THBS1 gene and the coefficients of anisotropy and orientation symmetry of corneal nerve fibers. These results allow considering these polymorphic markers as a genetic factor of predisposition to dry eye syndrome in patients with Sjögren syndrome. Key Words: dry eye syndrome; Sjögren syndrome; corneal nerve fibers; THBS1 gene; confocal microscopy Dry eye syndrome (DES) is an ophthalmological manifestation of Sjögren syndrome (SS). Cytokines and MMPs initiate inflammatory cascade reactions leading to impairment of visual functions due to involvement of cornea in the pathological process [8]. Cornea is the most innervated tissue with 7000 nociceptors per 1 mm surface [7]. Most corneal nerves are presented by sensory fibers; the nerve fibers are oriented parallel to the stromal collagen fibrils and their general orientation on the ocular surface can be defined as radial [9]. In response to irritation, nerve endings release neurotransmitters, mainly substance P (SP) and/or pituitary calcitonin gene-related peptide [6], pituitary adenylate cyclase-activating polypeptide (PACAP), and neuropeptide similar to the vasoactive intestinal peptide (VIP), that participate in the development of inflammatory reaction on the ocular surface. However, in some patients with SS, cornea can remain intact for a long time and starts Research Institute of Eye Diseases; 2Research Institute of General Pathology and Pathophysiology, Moscow, Russia. Address for correspondence: [email protected]. G. V. Zaitseva 1
to be involved in inflammatory process a long time after disease manifestation. It is known that SS is an autoimmune genetically determined pathology [3] associated with the presence of certain allelic variants of genes THBS1, GTF2I, MUC1, TRIM21, STAT4, and PTPN22 in the genotype; their products are directly or indirectly involved in the immune response regulation. Analysis of genetic variations in THBS1 gene showed that its reduced expression in the epithelial cells of the ocular surface leads to the development of DES associated with SS [5]. In the context of DES development, THBS1 gene is of inte
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