title: The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers.
abstract: The purpose of this study was to examine the association of the BstUI RFLP C/T (rs 12722) and DpnII RFLP C/T (rs 13946) COL5A1 polymorphisms, individually and as haplotypes, with anterior cruciate ligament ruptures in recreational skiers. Subjects were 138 male recreational skiers with surgically diagnosed primary anterior cruciate ligament ruptures. The control group consisted of 183 apparently healthy male recreational skiers, who were without any self-reported history of ligament or tendon injury. DNA was extracted from buccal cells donated by the subjects and genotyping was carried out using real-time PCR. The genotype distributions for both polymorphisms met Hardy-Weinberg expectations in both groups. There were no significant differences in genotype distribution of allele frequencies of COL5A1 BstUI RFLP C/T and COL5A1 DpnII RFLP C/T polymorphisms between the ACL rupture and control groups. The T-T (BstUI RFLP T, DpnII RFLP T) haplotype was the most common (55.6%). The haplotype T-C was not present in any of the subjects. There was an underrepresentation tendency of the C-T haplotype in the study group compared to controls under recessive mode of inheritance. Higher frequency of the COL5A1 BstUI RFLP C/T and COL5A1DpnII RFLP C/T polymorphisms haplotype is associated with reduced risk of anterior cruciate ligament injury in a group of apparently healthy male recreational skiers.
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Stępień-Słodkowska
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Ficek
authors.affiliation: Gdansk University of Physical Education and Sport, Faculty of Tourism and Recreation, Gdansk, Poland.
authors.forename: Mariusz
authors.initials: M
authors.lastname: Kaczmarczyk
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Maciejewska-Karłowska
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Sawczuk
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland. ; Gdansk University of Physical Education and Sport, Faculty of Tourism and Recreation, Gdansk, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Leońska-Duniec
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland.
authors.forename: Miłosz
authors.initials: M
authors.lastname: Stępiński
authors.affiliation: Medical University at Szczecin, Department of Orthopedics and Traumatology of Pomeranian Medical, Szczecin, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Ziętek
authors.affiliation: University of Rzeszow, Department of Physical Culture, Rzeszow, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Król
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland.
authors.forename: Monika
authors.initials: M
authors.lastname: Chudecka
authors.affiliation: University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland. ; Gdansk University of Physical Education and Sport, Faculty of Tourism and Recreation, Gdansk, Poland.
authors.forename: Paweł
authors.initials: P
authors.lastname: Cięszczyk
keywords: ACL rupture; collagen; polymorphisms; real-time polymerase chain reaction