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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INTRODUCTION
One of the most severe injuries sustained by
athletes is rupture of the anterior cruciate ligament
(ACL) [1]. The exact etiology of ACL ruptures is
poorly understood, but recently conducted investigations
indicate that around 70.0% of ACL ruptures
are the consequence of forces applied to the knee
at the time of injury, which result from the athlete’s
own movements and do not involve contact with
another athlete or object [2]. That seems to be the
reason that the risk of ACL rupture is significantly
higher in sports requiring change in direction and
rapid deceleration during cutting, pivoting and landing
[3]. Therefore, it is not surprising that one of
the groups of athletes with the highest frequency of
ACL rupture are football players [4]. Analyzing individual cases of ACL injuries in
football players raises the question as to why one
member of a team (with the same load and movement
character) is exposed to ACL injury, while
fellow team mates are not. Recent investigations
suggest that the risk of ACL rupture results from familial
predispositions and specific genetic sequence
variants [5]. At this point in time, only a few studies
have given evidence of the connection between
ACL injury and specific genetic risk factors [6-10],
mostly among sequence variants within the COL5A1
and COL1A1 genes.
Anterior cruciate ligaments are collagenous
structures consisting of water and fibro-cartilaginous
specific proteins, which build collagen fibrils [11].
The main structural components of this ligament are
collagens type I, III-VI, XII and XIV, but also proteoglycans
such as decorin, lumican and versican,
and glycoproteins such as elastin, tenascin C and
cartilage oligomeric matrix protein (COMP) [12].
In the present state of knowledge, any proteins
(and what is more, any genes that encode these
proteins) that are functionally associated with ligaments
could be potential candidates [13-15]. Hence,
any such genes and proteins that have already been
implicated with ACL injury should be designated as
candidates of priority [7]. In our study, we decided
to investigate COL12A1, which is one of the less
frequently studied genes in the context of predisposition
to ACL injury.
The COL12A1 gene (121 kb; mapped to chromosome
6q12-q13) encodes the α1 chains of the
various long (XIIA) and short (XIIB) homotrimeric
isoforms of type XII collagen [16,17]. According
to the database hosted by the National Center for
Biotechnology and Information (NCBI), five single
nucleotide polymorphisms (SNPs) are shown in
COL12A1 exons. Only two of them (rs240736 and
rs970547) were identified as non synonymous SNPs
(i.e. SNPs that change the amino acid sequence in
the gene product) [13].
In one of the previous studies, it was suggested
that especially the A/G transition at position 162 of
exon 65 (9285 A/G, S3058G, rs970547) may alter
the biomechanical properties of the collagen fibril
and thus may increase the risk of ACL ruptures [18].
In light of the facts mentioned above, we decided
to investigate whether the COL12A1 A9285G polymorphism
was associated with ACL ruptures in Polish
football players.
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