DOES THE A9285G POLYMORPHISM IN COLLAGEN
TYPE XII α1 GENE ASSOCIATE WITH THE RISK OF
ANTERIOR CRUCIATE LIGAMENT RUPTURES?
Ficek K, Stepien-Slodkowska M, Kaczmarczyk M, Maciejewska-Karlowska A, Sawczuk M,
Cholewinski J, Leonska-Duniec A, Zarebska A, Cieszczyk P, Zmijewski P,
*Corresponding Author: Piotr Zmijewski, Ph.D., Institute of Sport, Department of Physiology, Trylogii 2/16, 01-982
Warsaw, Poland. Tel.: +48-228340812. Fax: +480228350977. E-mail: piotr.zmijewski@insp.waw.pl
page: 41
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Abstract
One of the most severe injuries sustained by
athletes is rupture of the anterior cruciate ligament
(ACL). Recent investigations suggest that a predisposition
for ACL rupture may be the result of specific
genetic sequence variants. In light of this, we decided
to investigate whether the COL12A1 A9285G polymorphism
was associated with ACL ruptures in Polish
football players.
We compared genotypic and allelic frequencies
of the COL12A1 A9285G polymorphism in two
groups of athletes: 91 male football players (23 ± 3
years) with surgically diagnosed primary ACL ruptures
who qualified for ligament reconstruction (cases)
and 143 apparently healthy, male football players
of the same ethnicity, a similar age category, and a
comparable level of exposure to ACL injury, who
were without any self-reported history of ligament
or tendon injury (controls). DNA samples extracted
from the oral epithelial cells were genotyped by using
a real-time polymerase chain reaction (Ri-Ti-
PCR) method.
The genotype distribution in the cases were not
different from those in controls (p = 0.70). The frequency
of the G allele was lower in the cases (18.1%)
but not statistically significant (p = 0.40) when compared
with controls (21.3%).
Our results are in contradiction to the hypothesis
that the COL12A1 A9285G polymorphism is associated
with a predisposition for ACL injury. However,
these conclusions should be supported with more experimental
studies on COL12A1 polymorphisms.
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