Biology of Sport
eISSN: 2083-1862
ISSN: 0860-021X
Biology of Sport
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1/2013
vol. 30
 
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abstract:

Original paper
THE +1245G/T POLYMORPHISMS IN THE COLLAGEN TYPE I ALPHA 1 (COL1A1) GENE IN POLISH SKIERS WITH ANTERIOR CRUCIATE LIGAMENT INJURY

M. Stępień-Słodkowska
,
K. Ficek
,
J. Eider
,
A. Leońska-Duniec
,
A. Maciejewska-Karłowska
,
M. Sawczuk
,
A. Zarębska
,
Z. Jastrzębski
,
A. Grenda
,
K. Kotarska
,
P Cięszczyk

Biol. Sport 2013;30:57-60
Online publish date: 2014/07/22
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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.
keywords:

anterior cruciate ligament (ACL) rupture, COL1A1 gene, collagen, polymorphism, skiers

 
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