The Variants Within the COL5A1 Gene are Associated with Reduced Risk of Anterior Cruciate Ligament Injury in Skiers

• Authors: Marta Stępień-Słodkowska , Krzysztof Ficek , Mariusz Kaczmarczyk , Agnieszka Maciejewska-Karłowska , Marek Sawczuk , Agata Leońska-Duniec , Miłosz Stępiński , Paweł Ziętek , Paweł Król , Monika Chudecka , Paweł Cięszczyk
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

ACL rupture; collagen; polymorphisms; real-time polymerase chain reaction

• Publisher: De Gruyter Open
• Journal: Journal of Human Kinetics
• Year: 2015
• Volume: 45
• Issue: 1
• Pages: 103-111

Dates

published

1 - 3 - 2015

online

7 - 4 - 2015

Contributors

author

Marta Stępień-Słodkowska

• University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland

author

Krzysztof Ficek

• University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland

author

Mariusz Kaczmarczyk

• Gdansk University of Physical Education and Sport, Faculty of Tourism and Recreation, Gdansk, Poland

author

Agnieszka Maciejewska-Karłowska

• University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland

author

Marek Sawczuk

• University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland

author

Agata Leońska-Duniec

• 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

author

Miłosz Stępiński

• University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland

author

Paweł Ziętek

• Medical University at Szczecin, Department of Orthopedics and Traumatology of Pomeranian Medical, Szczecin, Poland

author

Paweł Król

• University of Rzeszow, Department of Physical Culture, Rzeszow, Poland

author

Monika Chudecka

• University of Szczecin, Department of Physical Culture and Health Promotion, Szczecin, Poland

author

Paweł Cięszczyk

• 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

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Identifiers

DOI

10.1515/hukin-2015-0011