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Extracellular Matrix Signalling and Injury Susceptibility: ACAN and FMOD Variants in Sports-Related Musculoskeletal
Agata Rzeszutko-Bełzowska1, Agata Leońska-Duniec2
1Faculty of Physical Culture Sciences, College of Medical Sciences, University of Rzeszow, 35-326 Rzeszow, Poland.
Genetic variations in aggrecan (ACAN) and fibromodulin (FMOD) genes were not robustly linked to sports injuries. Some ACAN variants showed nominal associations with anterior cruciate ligament (ACL) injuries, requiring further study in larger populations.
Area of Science:
- Genetics and Sports Medicine
- Molecular Biology and Injury Epidemiology
Background:
- Musculoskeletal soft-tissue injuries are prevalent in physically active individuals.
- Genetic factors, particularly variations in extracellular matrix (ECM) genes, may influence injury susceptibility.
- Investigating polymorphisms in aggrecan (ACAN) and fibromodulin (FMOD) could elucidate genetic predispositions to sports injuries.
Purpose of the Study:
- To determine if specific polymorphisms in the ACAN and FMOD genes are associated with the risk of sports-related musculoskeletal injuries.
- To analyze the association between ACAN rs2351491, rs1042631, and FMOD rs7543148 variants and injury susceptibility in physically active Caucasians.
Main Methods:
- A case-control study involving 335 physically active Caucasians (202 injured, 133 controls).
- Genotyping of ACAN (rs2351491, rs1042631) and FMOD (rs7543148) polymorphisms using real-time polymerase chain reaction.
- Statistical analysis to assess associations between genotypes and overall injury occurrence, and specific injuries like anterior cruciate ligament (ACL) tears.
Main Results:
- No significant associations were found between the studied polymorphisms and overall injury risk after correcting for multiple comparisons.
- A nominal association was observed for ACAN rs2351491 (CT heterozygotes) with overall injury risk (p=0.0457).
- ACAN rs1042631 showed nominal associations with ACL injury risk across different genetic models, with the TT genotype potentially linked to lower odds (OR=0.15).
Conclusions:
- The investigated ACAN and FMOD gene variants do not show robust associations with musculoskeletal soft-tissue injury susceptibility.
- Nominal associations for ACAN variants, especially concerning ACL injuries, warrant cautious interpretation and require validation in larger cohorts.
- Further research with larger sample sizes is needed to confirm potential genetic links to sports-related injuries.
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