RESUMO
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.
RESUMO
Optical neuritis (ON), otherwise known as optical nerve damage, is a term used to describe various environmental and body conditions that lead to optic nerve dysfunction. Neurologists are well aware of conditions that cause optic neuropathy, such as trauma, infections, malnutrition, and various toxins. As optic neuritis is a multifactorial demyelinating or infectious process, genetic predisposition may also influence the progression of optic neuritis. This study aimed to evaluate the association of ON (with and without multiple sclerosis) with APOE alleles and APOE serum levels. We found that the APOE ε3/ε3 genotype was statistically less common in the ON group of males than in the control group (p = 0.045). Moreover, the APOE ε3/ε3 genotype had a 3.7-fold increase in the odds of ON development in males (OR = 3.698; CI: 1.503-9.095; p = 0.004). In contrast, the APOE ε3/ε4 genotype had a 4.1-fold decrease in the odds of ON development in males (OR = 0.242; CI: 0.083-0.704; p = 0.009). APOE serum levels were statistically significantly higher in the ON group than in the control group (p = 0.042). The APOE ε3/ε3 genotype may increase males' risk of developing ON, while the ε3/ε4 genotype may reduce males' risk of developing ON.