Optic Neuritis: The Influence of Gene Polymorphisms and Serum Levels of ISTAT4/I

• Published in: Journal of clinical medicine Vol. 13; no. 1
• Main Authors: Gedvilaite, Greta, Duseikaitė, Monika, Dubinskaite, Gabrielė, Kriauciuniene, Loresa, Zemaitiene, Reda, Liutkevicienė, Rasa
• Format: Journal Article
• Language: English
• Published: MDPI AG 01-12-2023
• Subjects: Analysis; Enzyme-linked immunosorbent assay; Genes; Genetic aspects; Genetic polymorphisms; Health aspects; Measurement; Multiple sclerosis; Optic neuritis; Risk factors; STAT proteins; Lithuania
• ISSN: 2077-0383; 2077-0383
• DOI: 10.3390/jcm13010010

The aim of the study was to evaluate the associations of STAT4 (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 STAT4 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%, p = 0.003). STAT4 rs10168266 allele C was statistically significantly more frequent in the ON group with MS than in the control group (89.06% vs. 71.75%, p = 0.003). The haplotypes G-G-A-C and C-T-A-T of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) were associated with an 11.5- and 19.5-fold increased odds of ON occurrence (p = 0.003; p = 0.008, respectively). In optic neuritis without MS occurrence, STAT4 (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 (p = 0.002, p = 0.016, respectively). The current findings may indicate a risk role of STAT4 (rs10181656, rs7574865, rs7601754, rs10168266) G-G-A-C and C-T-A-T haplotypes in the occurrence of optic neuritis.