Influence of biological factors on injuries occurrence in the Polish population

Abstract

Introduction and objective Anterior cruciate ligament rupture is one of the most common knee injuries in sports. Although various intrinsic and extrinsic risk factors have been identified, the exact aetiology of the injury is not yet fully understood. Single nucleotide polymorphisms (SNPs) in the collagen type I (COL1A1) gene have been shown to be associated with several complex connective tissue disorders. The aim of this study was to examine the association of -1997G/T polymorphisms in the COL1A1 gene with ACL ruptures in Polish recreational skiers in a case-control study. Material and Methods A total of 180 male and female recreational skiers with surgically diagnosed with primary ACL ruptures were recruited for the study, all of whom qualified for ligament reconstruction. The control group was comprised of 245 apparently healthy male and female skiers with a comparable level of exposure to ACL injury, none of whom had any self-reported history of ligament or tendon injury. DNA samples extracted from the oral epithelial cells were genotyped for -1997G/T polymorphisms using PCR method. Results Genotype distribution in the cases (GG-82.2% GT-16.7%; TT-1.1%) showed significant difference (P=0.036) compared to controls (GG-71.4% GT-26.5%; TT-2.2%). The frequency of the GG genotype in the ACL rupture group was also statistically significant (p=0.011, Fisher’s exact test recessive mode: GG vs GT+TT). The frequency of the G allele was higher in these cases (90.6%), and also statistically significant (p=0.012) when compared with controls (84.7%). Conclusions The results obtained indicate that the -1997G/T COL1A1 gene is one of the genetic markers to be taken into the consideration in the identification of the risk of ACL injury.

Keywords

• anterior cruciate ligament (ACL) rupture
• COL1A1 gene
• collagen
• polymorphism