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Updated: May 19, 2026
08:03
Treatment of Ligament Constructs with Exercise-conditioned Serum: A Translational Tissue Engineering Model
Published on: June 11, 2017
Collagen genes and exercise-associated muscle cramping
Kevin O'Connell1, Michael Posthumus, Martin P Schwellnus
1UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Summary
Genetic variants in connective tissue genes may influence exercise-associated muscle cramping (EAMC). The COL5A1 gene variant was significantly associated with a lower history of EAMC in this study.
Area of Science:
- Genetics
- Sports Medicine
- Musculoskeletal System
Background:
- Exercise-associated muscle cramping (EAMC) is a common issue for endurance athletes.
- Connective tissue genes, including COL5A1, COL3A1, COL6A1, and COL12A1, play a role in musculoskeletal health.
- Genetic predispositions may influence susceptibility to EAMC.
Purpose of the Study:
- To investigate the association between specific polymorphisms in COL5A1, COL3A1, COL6A1, and COL12A1 genes and a history of EAMC.
- To determine if genetic variants in connective tissue genes modulate the risk of developing EAMC.
Main Methods:
- A retrospective genetic case-control association study design was employed.
- Participants were recruited from triathlon and ultra-marathon events.
- Genotyping was performed for COL5A1 rs12722, COL3A1 rs1800255, COL6A1 rs35796750, and COL12A1 rs970547 polymorphisms in 116 EAMC cases and 150 controls.
Main Results:
- A significant overrepresentation of the COL5A1 CC genotype was observed in the control group (NON group) compared to the EAMC group (P = 0.031).
- No significant genotype differences were found for COL3A1, COL6A1, or COL12A1 polymorphisms between the EAMC and NON groups.
Conclusions:
- The COL5A1 gene, specifically the rs12722 polymorphism, is identified as a potential marker associated with a history of EAMC.
- This finding suggests a potential genetic link between COL5A1 variants and susceptibility to exercise-induced muscle cramping.
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