Association of IL1b exon5 3953 C/T Polymorphism and Rheumatoid Arthritis Predisposition in Sudanese Patients

Abstract

Abstract Rheumatoid arthritis (RA) is a chronic inflammatory "autoimmune" disease, characterized by inflamed synovium and progressive joint destruction, which can lead to substantial loss of mobility among large scale of the patients. The etiology of rheumatoid arthritis (RA) is uncertain and the genetic information is important for understanding the mechanisms of the disease. Cytokines are considered to play an important role in the pathogenesis of RA as the imbalance between pro- and anti-inflammatory cytokines was known to promote the induction of autoimmunity, inflammation and joint destruction. IL-1B is considered as one of the key cytokine which drives inflammation and the destructive process. This study aimed to demonstrate the association of flle 3953 C/T polymorphism (rsl 143634) in exon 5 of IL-1B and the RA predisposition in our Sudanese patients. A case- control association study was conducted, involving 84 unrelated RA patients and 58 age-matched, healthy controls. The polymorphism was detected by PCR followed by RFLP using Taql restriction enzyme. The presents result showed that 86.3% of the examined RA patients are females. 46.3% of the cases are at age less than 35 years. 68% of the patients have articular manifestations. Family history of RA was

yet Q,-._1\ uan at-\\,»J\v;5,~ - rust oi.-j,.All as - ,-At.-.11 owe reported in 26% of the cases, with no significant difference between cases and controls (P=0.07). The mutant TT and TC genotypes were reported in 76.2% of the cases. A high significant difference of the IL- 1B polymorphism genotypes was observed between RA patients and controls, with 6 folds risk to develop RA (P=0.001, OR=5.6). 100% of RA patients live a sedentary live, no exercise practiced, 3 folds risk of RA was reported (P=0.00l, OR=2.6) compared to the controls. Zero of the cases are smokers. 72% are coffee consumers, however no significant difference between cases and controls was observed (P=0.l7). These results indicate that the 3953 C/T IL-lb gene polymorphism is a potential risk factor of rheumatoid arthritis predisposition in our Sudanese patients. Keywords: Rheumatoid arthritis risk factors, Cytokines‘ polymorphisms, ILlb