Research article - (2019)18, 137 - 145
Are IL1B, IL6 and IL6R Gene Variants Associated with Anterior Cruciate Ligament Rupture Susceptibility?
Ewelina Lulińska-Kuklik1, Ewelina Maculewicz2, Waldemar Moska1, Krzysztof Ficek3, Mariusz Kaczmarczyk1, Monika Michałowska-Sawczyn4, Kinga Humińska-Lisowska4, Maciej Buryta4, Jakub Chycki5, Pawel Cięszczyk5, Piotr Żmijewski6,, Agata Rzeszutko7, Marek Sawczuk1, Petr Stastny8, Miroslav Petr8, Agnieszka Maciejewska-Skrendo4
1Faculty of Tourism and Recreation, Gdansk University of Physical Education and Sport, Gdansk, Poland
2Department of Applied Physiology, Military Institute of Hygiene and Epidemiology, Warsaw, Poland
3Faculty of Physiotherapy, The Jerzy Kukuczka Academy of Physical Education in Katowice, Katowice, Poland
4Faculty of Physical Education, Gdansk University of Physical Education and Sport, Gdansk, Poland
5Faculty of Physical Education, The Jerzy Kukuczka Academy of Physical Education in Katowice, Katowice, Poland
6Faculty of Medicine, University of Information Technology and Management in Rzeszow, Poland
7Faculty of Physical Education, University of Rzeszow, Rzeszow, Poland
8Department of Sport Games, Charles University in Prague, Prague, Czech Republic

Piotr Żmijewski
✉ Faculty of Medicine, University of Information Technology and Management in Rzeszow, Poland
Email: piotr.zmijewski@insp.waw.pl
Received: 03-12-2018 -- Accepted: 16-01-2019
Published (online): 11-02-2019

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 IL1B and IL6 as well as interleukin receptor IL6R, 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 IL1B, IL6 and IL6R genes are associated with ACL rupture susceptibility in a Polish population. Among four analyzed SNPs, the rs1800795 IL6 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 IL6R rs2228145as well as IL1B 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.

Key words: Soft tissue injuries, ACL rupture, IL1B, IL6, IL6R

Key Points
  • A number of studies have suggested associations between ACL rupture and polymorphisms in the structural genes, possibly proposing that genetic predisposition is a factor of importance in ACL rupture.
  • It is highly unlikely that only the , and genes are exclusively associated with ACL rupture susceptibility.
  • This study supports the hypothesis that not a single, but rather multiple genetic variants are associated with risk of ACL injuries.








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