Polymorphism rs10499194 of the TNFA1P3 gene is not associated with a predisposition to ankylosing spondylitis in the Russian cohort of patients

• Published in: Nauchno-prakticheskai͡a︡ revmatologii͡a Vol. 60; no. 6; pp. 624 - 629
• Main Authors: Krylov, M. Yu, Erdes, Sh. F., Konovalova, N. V., Varlamov, D. A.
• Format: Journal Article
• Language: English; Russian
• Published: IMA PRESS LLC 26.12.2022
• Subjects: ankylosing spondylitis; basdai; extraaxillary arthritis; gender; rs10499194 polymorphism; rs10499194 tt genotype; tnfa1p3 gene
• ISSN: 1995-4484; 1995-4492
• DOI: 10.47360/1995-4484-2022-624-629

Background . Recently, numerous studies have shown that TNFAIP3 gene polymorphisms have been associated with susceptibility to certain autoimmune inflammatory diseases, including systemic lupus erythematosus, scleroderma, rheumatoid arthritis and psoriasis. However, the results of studies devoted to the study of associations between TNFAIP3 gene polymorphisms and the risk of ankylosing spondylitis (AS) are ambiguous and few. The aim of the study was to study the possible association of hs10499194 polymorphism of the TNFAIP3 gene with a predisposition to AS and its clinical phenotypes. Material and methods . The rs10499194 S/T polymorphism of the TNFA1P3 gene was studied in two hundred patients with AS (130 men and 70 women). All patients were diagnosed with AS, according to the modified New York criteria, 1984 and high activity of the disease. Demographic and clinical-serological characteristics were studied in all patients. The average age of patients was 39.4±12.6 years; the average duration of the disease was 15.0±10.6 years. Out of 200 patients, 175 (87.5%) were seropositive for HLA-B27 antigen. Extra axial arthritis was detected in 125 (62.5%) patients, 148 (74.0%) had enthesitis, 137 (68.5%) had coxitis. The polymorphism rs10499194 of the TNFAIP3 gene was studied using an allelespecific polymerase chain reaction in real time (PCR-RV) using the Synthol kit. Results. The analysis of the frequencies of genotypes and alleles did not show significant differences with the control group. Stratification by sex, age, and clinical manifestations showed an association of the CT genotype with an increased risk of AS among men (OR=2.24; p=0.010), the TT genotype and the T allele with a high risk of predisposition to the development of extra axillary peripheral arthritis (OR=3.94; p=0.019 and OR=1.64; p=0.027 respectively). The BASDAI index was statistically significantly higher in carriers of the TT genotype compared to the CT genotype (p=0.002). Conclusion. The present study confirmed the association of the genetic polymorphism rs10499194 of the TNFAIP3 gene with AS. Stratification by gender and clinical manifestations showed an association of the CT genotype with an increased risk of AS among men, the TT genotype and the T allele with a high risk of predisposition to the development of extra axillary peripheral arthritis and a high BASDAI index in carriers of the TT genotype.