Abstract
1/2013
vol. 30
Original paper
THE +1245G/T POLYMORPHISMS IN
THE COLLAGEN TYPE I ALPHA 1 (COL1A1)
GENE IN POLISH SKIERS WITH ANTERIOR
CRUCIATE LIGAMENT INJURY
Biol. Sport 2013;30:57-60
Online publish date: 2014/07/22
Objectives: The aim of this study was to examine the association of +1245G/T polymorphisms in
the COL1A1 gene with ACL ruptures in Polish male recreational skiers in a case-control study. Methods: A total
of 138 male recreational skiers with surgically diagnosed primary ACL ruptures, all of whom qualified for ligament
reconstruction, were recruited for this study. The control group comprised 183 apparently healthy male 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 the +1245G/T polymorphisms
using real-time PCR method. Results: Genotype distributions among cases and controls conformed to Hardy-
Weinberg equilibrium (p=0.2469 and p=0.33, respectively). There was a significant difference in the genotype
distribution between skiers and controls (p=0.045, Fisher’s exact test). There was no statistical difference in
allele distribution: OR 1.43 (0.91-2.25), p=0.101 (two-sided Fisher’s exact test). Conclusions: The risk of ACL
ruptures was around 1.43 times lower in carriers of a minor allele G as compared to carriers of the allele T.
the COL1A1 gene with ACL ruptures in Polish male recreational skiers in a case-control study. Methods: A total
of 138 male recreational skiers with surgically diagnosed primary ACL ruptures, all of whom qualified for ligament
reconstruction, were recruited for this study. The control group comprised 183 apparently healthy male 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 the +1245G/T polymorphisms
using real-time PCR method. Results: Genotype distributions among cases and controls conformed to Hardy-
Weinberg equilibrium (p=0.2469 and p=0.33, respectively). There was a significant difference in the genotype
distribution between skiers and controls (p=0.045, Fisher’s exact test). There was no statistical difference in
allele distribution: OR 1.43 (0.91-2.25), p=0.101 (two-sided Fisher’s exact test). Conclusions: The risk of ACL
ruptures was around 1.43 times lower in carriers of a minor allele G as compared to carriers of the allele T.
Keywords
anterior cruciate ligament (ACL) rupture, COL1A1 gene, collagen, polymorphism, skiers
Integrated with
