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IL17-related gene polymorphisms associated with orbital inflammatory diseases and their clinical features 眼眶炎性疾病相关il17基因多态性及其临床特征
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-03 DOI: 10.1016/j.exer.2025.110838
Ding-Ping Chen , Wei-Tzu Lin , Fang-Ping Hsu , Yen-Chang Chu
Autoimmune-associated orbital inflammation refers to the inflammation of orbital tissues resulting from immune system dysregulation. Interleukin-17 (IL-17) plays a critical role in immune defense, tissue repair, inflammation, and tumor progression. Given its immunomodulatory functions, this study aimed to investigate whether single-nucleotide polymorphisms (SNPs) in IL17-related genes contribute to susceptibility and clinical manifestations of orbital autoimmune diseases.
A total of 60 patients with orbital autoimmune disease and 60 healthy controls were recruited. Candidate SNPs in IL17A, IL17F, IL17RA, and IL17RC were selected based on known hotspots, including 500 bp upstream and downstream flanking regions. Associations between SNPs and disease status, as well as clinical features such as pain, diplopia, conjunctival inflammation, and eyelid retraction, were analyzed using chi-square or Fisher's exact tests.
The analysis revealed that rs9791323 in the promoter region of the IL17A gene was significantly associated with disease susceptibility (p = 0.045) but not with specific clinical features. Other SNPs were found to correlate with distinct symptoms: in IL17A, rs3804513 was associated with pain (p = 0.012); rs3819024 and rs2275913 with diplopia (p = 0.007 and 0.028, respectively); and rs8193036 with both diplopia (p = 0.002) and eyelid retraction (p = 0.033). In IL17F, rs9463772 was associated with pain (p = 0.005), while rs4715290 and rs11465530 were linked to eyelid retraction (p = 0.014 and 0.030, respectively). Three SNPs in IL17RA—rs4819553, rs4819958, and rs4819554—were significantly associated with conjunctival inflammation (p = 0.012). The IL17RC SNP rs708567 was also related to eyelid retraction (p = 0.049).
In conclusion, rs9791323 in IL17A may contribute to disease susceptibility, while other IL17-related SNPs appear to influence specific clinical features. These findings highlight the potential role of IL17 gene variants in both the pathogenesis and phenotypic variability of autoimmune-associated orbital inflammation.
自身免疫相关性眼眶炎症是指由免疫系统失调引起的眼眶组织炎症。白细胞介素-17 （IL-17）在免疫防御、组织修复、炎症和肿瘤进展中起着关键作用。鉴于其免疫调节功能，本研究旨在探讨il17相关基因的单核苷酸多态性（snp）是否与眼眶自身免疫性疾病的易感性和临床表现有关。共招募了60名眼眶自身免疫性疾病患者和60名健康对照者。根据已知热点选择IL17A、IL17F、IL17RA和IL17RC的候选snp，包括500 bp的上下游侧翼区域。snp与疾病状态之间的关联，以及诸如疼痛、复视、结膜炎症和眼睑收缩等临床特征，使用卡方检验或Fisher精确检验进行分析。分析显示，IL17A基因启动子区域的rs9791323与疾病易感性显著相关（p = 0.045），但与特定的临床特征无关。其他snp被发现与不同的症状相关：在IL17A中，rs3804513与疼痛相关（p = 0.012）；Rs3819024、rs2275913伴复视（p分别= 0.007、0.028）；rs8193036同时存在复视（p = 0.002）和眼睑缩回（p = 0.033）。在IL17F中，rs9463772与疼痛相关（p = 0.005），而rs4715290和rs11465530与眼睑缩回相关（p分别= 0.014和0.030）。il17ra中的三个snp -rs4819553、rs4819958和rs4819554-与结膜炎症有显著相关性（p = 0.012）。IL17RC SNP rs708567也与眼睑缩回有关（p = 0.049）。综上所述，IL17A中的rs9791323可能与疾病易感性有关，而其他与il17相关的snp可能影响特定的临床特征。这些发现强调了IL17基因变异在自身免疫相关性眼窝炎症的发病机制和表型变异中的潜在作用。
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引用次数: 0
Oxidative stress in glaucomatous retinal ganglion cell injury: Mechanisms and neuroprotective strategies 氧化应激在青光眼视网膜神经节细胞损伤中的作用：机制和神经保护策略。
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-02 DOI: 10.1016/j.exer.2025.110837
Yanzhi Xu , Peiyao Yu , Yifan Xie , Junze Yang , Jianbo Wu , Ling Ling , Wei Zhou
Glaucoma is one of the major causes of irreversible blindness worldwide. The disease is characterized by the progressive loss of retinal ganglion cells (RGCs), and recent evidence supports a key role for oxidative stress in the pathogenesis. In this review, we systematically examine the mechanisms of oxidative stress in the pathogenesis of RGC injury, including impaired mitochondrial function, neuroinflammation, and complement system dysregulation, as well as increased intraocular pressure (IOP). We then evaluate currently available neuroprotective strategies targeting these pathways and highlight in particular direct antioxidant therapies and inhibition of specific enzymes in the oxidative stress pathways. We then discuss recent advances powered by new methods such as single-cell multi-omics. A notable gap exists between encouraging results in preclinical models and less success in clinical trials. This disconnect points to important new directions for future research.
青光眼是世界范围内不可逆失明的主要原因之一。该疾病的特点是视网膜神经节细胞（RGCs）的逐渐丧失，最近的证据支持氧化应激在发病机制中的关键作用。在这篇综述中，我们系统地研究了氧化应激在RGC损伤发病机制中的作用机制，包括线粒体功能受损、神经炎症、补体系统失调以及眼压升高。然后，我们评估了目前针对这些途径的可用神经保护策略，并特别强调了直接抗氧化治疗和氧化应激途径中特定酶的抑制。然后我们讨论了由单细胞多组学等新方法推动的最新进展。在临床前模型中令人鼓舞的结果与在临床试验中不太成功之间存在着显著的差距。这种脱节为未来的研究指明了重要的新方向。
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引用次数: 0
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-01
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引用次数: 0
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-01
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引用次数: 0
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-01
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引用次数: 0
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-01
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引用次数: 0
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-01
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引用次数: 0
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-01
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引用次数: 0
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-01
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引用次数: 0
IF 2.7 2区 医学 Q1 OPHTHALMOLOGY
Experimental eye research
Pub Date : 2026-01-01
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引用次数: 0
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