Skip Navigation LinksHome > January 2013 - Volume 23 - Issue 1 > Collagen Genes and Exercise-Associated Muscle Cramping
Clinical Journal of Sport Medicine:
doi: 10.1097/JSM.0b013e3182686aa7
Original Research

Collagen Genes and Exercise-Associated Muscle Cramping

O’Connell, Kevin BSc (Med) (Hons)*; Posthumus, Michael PhD*; Schwellnus, Martin P. MBBCh, MSc (Med), MD*; Collins, Malcolm PhD*,†

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Objective: The authors hypothesized that variants within genes, such as COL5A1, COL3A1, COL6A1, and COL12A1, that code for connective tissue components of the musculoskeletal system may modulate susceptibility to exercise-associated muscle cramping (EAMC). Specifically, the aim of this study was to investigate if the COL5A1 rs12722 (C/T), COL3A1 rs1800255 (G/A), COL6A1 rs35796750 (T/C), and COL12A1 rs970547 (A/G) polymorphisms are associated with a history of EAMC.

Design: Retrospective genetic case–control association study.

Setting: Participants were recruited at triathlon and ultra-marathon events and were asked to report physical activity, medical history, and cramping history.

Participants: One hundred sixteen participants with self-reported history of EAMC within the past 12 months before an ultra-endurance event were included as cases in this study (EAMC group). One hundred fifty participants with no self-reported history of previous (lifelong) EAMC were included as controls (NON group).

Interventions: All participants were genotyped for the selected variants.

Main Outcome Measures: Differences in genotype frequency distributions, for COL5A1 rs12722, COL3A1 rs1800255, COL6A1 rs35796750, and COL12A1 rs970547, among the cases and controls.

Results: The COL5A1 CC genotype was significantly overrepresented (P = 0.031) among the NON group (21.8%) when compared with the EAMC group (11.1%). No significant genotype differences were found for the COL3A1 (P = 0.828), COL6A1 (P = 0.300), or COL12A1 (P = 0.120) genotypes between the EAMC and NON groups.

Conclusions: This study identified, for the first time, the COL5A1 gene as a potential marker for a history of EAMC.

Copyright © 2013 Wolters Kluwer Health, Inc. All rights reserved.

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