Are <i>IL1B, IL6</i> and <i>IL6R</i> Gene Variants Associated with Anterior Cruciate Ligament Rupture Susceptibility?

Abstract

Cytokines, such as interleukins, are crucial in regulating critical cell signaling pathways as well as being major contributors to inflammatory response and are upregulated during ligament and tendon injuries. The genes encoding key interleukins, such as <i>IL1B</i> and <i>IL6</i> as well as interleukin receptor <i>IL6R</i>, were chosen as candidate genes for association with soft tissue injuries. The aim of the case-control study was to verify the hypothesis that sequence variants rs1143627, rs16944, rs1800795, rs2228145 in the <i>IL1B</i>, <i>IL6</i> and <i>IL6R</i> genes are associated with ACL rupture susceptibility in a Polish population. Among four analyzed SNPs, the rs1800795 <i>IL6</i> gene polymorphism was found to be the only one significantly associated with ACL rupture (p = 0.010, p = 0.022, p = 0.004 for codominant, recessive and overdominant models, respectively; odds ratio = 1.74, 95% CI 1.08-2.81, sex adjusted p = 0.032 for recessive model). With reference to the other analyzed polymorphisms, we failed to show significant differences in the genotype and allele frequencies for <i>IL6R</i> rs2228145as well as <i>IL1B</i> rs16944 and rs1143627 (analyzed alone or in haplotype combination) between the ACL rupture group and the healthy control group among Polish participants. Due to the nature of case-control studies, the results of this study need to be confirmed in independent studies with larger sample sizes.