Influence of STAT4 Genetic Variants and Serum Levels on Multiple Sclerosis Occurrence in the Lithuanian Population.

Background: Multiple sclerosis (MS) is an autoimmune disease involving demyelination, inflammation, gliosis, and the loss of neurons. MS is a growing global health problem most likely caused by genetic, immunological, and environmental factors. However, the exact etiology of the disease is still unknown. Since MS is related to a dysregulation of the immune system, it could be linked to signal transducer and activator of transcription 4 (STAT4). To fully comprehend the significance of the STAT4 gene and STAT4 serum levels in MS, further research is required. Methods: A total of 200 MS patients and 200 healthy controls participated in the study. Deoxyribonucleic acid (DNA) was extracted using silica-based membrane technology. Polymerase chain reaction was used in real time for genotyping. Using the ELISA technique, serum levels were measured. Results: STAT4 rs7601754 AA genotype and the A allele were statistically significantly less frequent in MS patients ( p = 0.003). Also, rs7601754 was associated with 1.9-fold increased odds of MS occurrence ( p = 0.004). The rs7601754 AG genotype was more common in males with MS ( p = 0.011) and was associated with 2.5-fold increased odds of MS occurrence in males ( p = 0.012). STAT4 serum levels were statistically significantly lower in MS patients compared to the control group ( p = 0.007). Conclusions: STAT4 rs7601754 increases the odds of MS occurrence. STAT4 serum levels were statistically significantly lower in MS patients compared to the control group.