Abstract

Rheumatoid arthritis (RA) is a chronic autoimmune disease that is both genetically and environmentally determined. The objectives of the present study were to test the relationship between two single nucleotide polymorphisms (SNPs) of BIRC5 (Survivin) gene-rs9904341 and-rs17878467 and RA susceptibility and response to disease-modifying anti-rheumatic drugs (DMARDs) in Iraqi patients. A total of 70 RA patients and 30 age- and sex-matched healthy controls were sampled in terms of blood. Taquinase-associated genotyping was carried out and mRNA expression was determined by using qRT-PCR. RA patients exhibited a significant higher prevalence of the rs9904341 C allele and but not with the CC genotype and were associated with an increased disease activity. In the same way, the RA had a significant association with the genotype, rs17878467 AA. It is interesting to note that these two SNPs demonstrated a different distribution pattern, between patients who were treated with methotrexate alone, and those who were treated with biologic therapy. Additionally, BIRC5 mRNA levels were also highly expressed in RA patients than controls and most importantly, patients on methotrexate monotherapy. The presented findings indicate that the BIRC5 gene polymorphs and expression levels can be considered possible genetic and molecular biomarkers of RA predisposition and treatment stratification among Iraqis.