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The Role of Polymorphic Markers rs1478604, rs2292305, and rs2228262 in THBS1 Gene in the Development of Autoimmune Dry Eye Syndrome
Bulletin of Experimental Biology and Medicine ( IF 0.9 ) Pub Date : 2020-09-01 , DOI: 10.1007/s10517-020-04960-0
T N Safonova 1 , Z V Surnina 1 , G V Zaitseva 1 , A M Burdennyi 2 , V I Loginov 2
Affiliation  

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.

中文翻译:

THBS1基因中多态性标记rs1478604、rs2292305和rs2228262在自身免疫性干眼症发展中的作用

揭示了 THBS1 基因中的多态性标记 rs2228262 与干燥综合征发生干眼症的风险之间的关联。共聚焦显微镜数据表明,即使在没有干眼症的临床和功能体征的情况下,这种多态性标记也是 Sjögren 综合征角膜神经纤维病变的高概率的原因。THBS1基因多态性标记rs1478604、rs2228262与角膜神经纤维的各向异性系数和取向对称性系数之间建立了显着相关性。这些结果允许将这些多态性标记视为干燥综合征患者易患干眼症的遗传因素。
更新日期:2020-09-01
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