Gedvilaite Greta, Duseikaitė Monika, Dubinskaite Gabrielė, Kriauciuniene Loresa, Zemaitiene Reda, Liutkevicienė Rasa
Laboratory of Ophthalmology, Institute of Neuroscience, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania.
Medical Faculty, Lithuanian University of Health Sciences, LT-50161 Kaunas, Lithuania.
J Clin Med. 2023 Dec 19;13(1):10. doi: 10.3390/jcm13010010.
The aim of the study was to evaluate the associations of (rs10181656, rs7574865, rs7601754, rs10168266) gene polymorphisms and STAT4 serum level in patients with optic neuritis. Eighty-one subjects with optic neuritis (ON) and 158 healthy subjects participated in the study. Genotyping was performed using real-time polymerase chain reaction to obtain data. STAT4 serum level was determined using the ELISA method. Statistical analysis revealed that rs7574865 allele G was statistically significantly more frequent in patients with ON and multiple sclerosis (MS) than in the control group (84.38% vs. 65.93%, = 0.003). rs10168266 allele C was statistically significantly more frequent in the ON group with MS than in the control group (89.06% vs. 71.75%, = 0.003). The haplotypes G-G-A-C and C-T-A-T of (rs10181656, rs7574865, rs7601754, rs10168266) were associated with an 11.5- and 19.5-fold increased odds of ON occurrence ( = 0.003; = 0.008, respectively). In optic neuritis without MS occurrence, (rs10181656, rs7574865, rs7601754, rs10168266) haplotypes G-G-A-C and C-T-A-T were found to be associated with 32.6- and 9-fold increased odds of ON without MS ( = 0.002, = 0.016, respectively). The current findings may indicate a risk role of (rs10181656, rs7574865, rs7601754, rs10168266) G-G-A-C and C-T-A-T haplotypes in the occurrence of optic neuritis.
本研究旨在评估视神经炎患者中（rs10181656、rs7574865、rs7601754、rs10168266）基因多态性与信号转导和转录激活因子4（STAT4）血清水平之间的关联。81例视神经炎（ON）患者和158例健康受试者参与了本研究。采用实时聚合酶链反应进行基因分型以获取数据。使用酶联免疫吸附测定法测定STAT4血清水平。统计分析显示，rs7574865基因的G等位基因在ON患者和多发性硬化症（MS）患者中出现的频率在统计学上显著高于对照组（84.38%对65.93%，P = 0.003）。rs10168266基因的C等位基因在合并MS的ON组中出现的频率在统计学上显著高于对照组（89.06%对71.75%，P = 0.003）。（rs10181656、rs7574865、rs7601754、rs10168266）的单倍型G-G-A-C和C-T-A-T与ON发生几率分别增加11.5倍和19.5倍相关（P分别为0.003；P = 0.008）。在未发生MS的视神经炎患者中，发现（rs10181656、rs7574865、rs7601754、rs10168266）单倍型G-G-A-C和C-T-A-T与未合并MS的ON发生几率分别增加32.6倍和9倍相关（P分别为0.002，P = 0.016）。目前的研究结果可能表明（rs10181656、rs7574865、rs7601754、rs10168266）的G-G-A-C和C-T-A-T单倍型在视神经炎发生中具有风险作用。
