视神经炎：基因多态性及血清水平（rs10181656、rs7574865、rs7601754、rs10168266）的影响
Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of (rs10181656, rs7574865, rs7601754, rs10168266).
作者信息
Gedvilaite Greta, Duseikaitė Monika, Dubinskaite Gabrielė, Kriauciuniene Loresa, Zemaitiene Reda, Liutkevicienė Rasa
机构信息
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.
出版信息
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。
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