Atanasovska Velkovska Makedonka, Goričar Katja, Blagus Tanja, Dolžan Vita, Cvenkel Barbara
Department of Ophthalmology, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Pharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
J Clin Med. 2021 Mar 9;10(5):1148. doi: 10.3390/jcm10051148.
Oxidative stress and neuroinflammation are involved in the pathogenesis and progression of glaucoma. Our aim was to evaluate the impact of selected single-nucleotide polymorphisms in inflammation and oxidative stress genes on the risk of glaucoma, the patients' clinical characteristics and the glaucoma phenotype. In total, 307 patients with primary open-angle glaucoma or ocular hypertension were enrolled. The control group included 339 healthy Slovenian blood donors. DNA was isolated from peripheral blood. Genotyping was performed for rs4880, rs1001179, rs1050450, rs1695, gene deletion, 1 gene deletion, rs1143623, rs16944, rs1800795 and rs1800629. We found a nominally significant association of gene deletion with decreased risk of ocular hypertension and a protective role of rs16944 and rs1800629 in the risk of glaucoma. The CT and TT genotypes of rs1050450 were significantly associated with advanced disease, lower intraocular pressure and a larger vertical cup-disc ratio. In conclusion, genetic variability in and may be associated with glaucoma risk, while and may be associated with the glaucoma phenotype. In the future, improved knowledge of these pathways has the potential for new strategies and personalised treatment of glaucoma.
氧化应激和神经炎症参与青光眼的发病机制和进展。我们的目的是评估炎症和氧化应激基因中选定的单核苷酸多态性对青光眼风险、患者临床特征和青光眼表型的影响。总共招募了307例原发性开角型青光眼或高眼压症患者。对照组包括339名健康的斯洛文尼亚献血者。从外周血中分离DNA。对rs4880、rs1001179、rs1050450、rs1695、基因缺失、1基因缺失、rs1143623、rs16944、rs1800795和rs1800629进行基因分型。我们发现基因缺失与高眼压风险降低存在名义上的显著关联，以及rs16944和rs1800629在青光眼风险中具有保护作用。rs1050450的CT和TT基因型与疾病进展、较低眼压和较大的垂直杯盘比显著相关。总之，[基因名称未明确]和[基因名称未明确]的基因变异性可能与青光眼风险相关，而[基因名称未明确]和[基因名称未明确]可能与青光眼表型相关。未来，对这些途径的深入了解有可能为青光眼带来新的治疗策略和个性化治疗方法。
