Analysis of potential variant in the TNF-α gene in ankylosing spondylitis patients and its relationship with clinical parameters

Objective: Ankylosing spondylitis is common in the community and Anti-TNF drugs are used in its treatment. In addition, TNF-α is effective in AS pathogenesis. For these reasons, we aimed to analyze TNF-α genes (-238, -308 nucleotide regions located in the promoter region) in AS patients, to identify possible gene variants and to examine their possible relationship with clinical parameters. Material and Method: 121 AS and 103 healthy blood donors who applied to Gaziantep University Physical Medicine and Rehabilitation Department / Rheumatology outpatient clinic were included in our study. The clinical and demographic characteristics of the patients were questioned and recorded. In the patient and control groups, the -238 and -308 gene polymorphisms in the TNF-α promoter region were investigated by PCR-RFLP method. Bath Ankylosing Spondylitis Disease Activity Score (BASDAI), Bath Ankylosing Spondylitis Metrology Index (BASMI), Bath Ankylosing Spondylitis Functional Index (BASFI), Bath Ankylosing Spondylitis Radiological Index (BASRI), Night and Day Visual Analogue Scale (VAS) Quality Scale (ASQoL) scores were calculated and recorded. Results: There were no significant differences between the patient and control groups in terms of gender and age, and the groups were similarly distributed in terms of gender and age. In our study , the patient and control groups were compared genotype and allele differences. In statistical analysis, no statistically significant difference were found between the patient and control groups in terms of allele and genotype. The relationships between genotypes of the TNF-α 238th region of the individuals in the patient group with clinical parameters were compared. There were no significant differences between genotype and clinical parameters. The relationships between genotypes of the TNF-α 308th region of individuals in the patient group with clinical parameters were compared. There were no significant difference between genotype and clinical parameters. Relationships of individuals in the patient group with clinical parameters according to gender distribution were compared, the difference was not found statistically significant. Conclusion: In our study; the patient and control groups were compared in terms of genotype and allele, and there were no statistically significant difference between the patient and control groups. Additionaly, there were no statistically significant difference between clinical parameters of TNF-α -238 and -308 promoter region genotypes in AS patients. Keywords: Ankylosing spondylitis, TNF-α gene, Polymorphism