Association IL1Bgene polymorphisms (RS1143634 AND RS1143627) with knee osteoarthritis (KOA) risk in the north Indian population

Abstract

Purpose: Association IL1B gene polymorphisms (rs1143634 and rs1143627) with knee osteoarthritis (KOA) risk in the North Indian population Methods: We studied the association between IL1B polymorphisms (rs1143634 and rs1143627) and KOA risk by analysing the genotypes of 300 knee OA cases and equal number of controls using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. Results: There was no significant difference in demographic characteristics between the cases and controls. The frequency of genotype rs1143634 and rs1143627 polymorphism of IL1b genes of case and control were compared, no significant difference was found. The frequency of T allele was found significantly greater than C allele (p=0.02) in rs1143634 in cases when compared with normal healthy control showing increased risk in of OA Knee. However, the frequency of C allele was not found significantly greater than T allele (p=0.06) in rs1143627 in cases when compared with normal healthy control. Logistic regression analysis after adjusting for gender and age revealed, no significant differences in the genotype and allele frequencies of both polymorphisms of IL1B gene. No significant difference was observed within the genotype with KL grading and Clinical scores (Womac features and Visual Analogue scale). Further Haplotype approach was also used but no significant difference was observed in any haplotype. Conclusions: In this study both polymorphisms (rs1143634 and rs1143627) of IL1B genes were not significantly associated but marginally positive association data observed for rs1143634 polymorphism in knee cases. When haplotype analysis was performed and no significant difference was found, suggesting that the original associations could be false positive for rs1143634 polymorphism. Further studies are necessary to identify the association of this rs1143634 polymorphism with knee OA in other population and also on different joint sites to give a global view of this polymorphism in pathogenesis of OA.