The COL5A1 genotype is associated with range of motion measurements.
There is an interest in identifying the intrinsic risk factors, including altered musculotendinous flexibility, that may be associated with musculotendinous injuries. We have recently shown that a sequence variant, namely the BstUI restriction fragment length polymorphism (RFLP), within the COL5A1 gene is associated with chronic Achilles tendinopathy. Mutations within COL5A1 have been implicated in Ehlers Danlos syndrome, a condition that is characterized by joint hypermobility. The aim of this study was to investigate the association of sequence variants within COL5A1 and musculotendinous range of motion (ROM). The sit and reach (SR) and the passive straight leg raise (SLR) were measured on 119 Caucasian subjects with either a past, current or no history of Achilles tendon injuries. The subjects were genotyped for four sequence variants within the 3'-UTR of the COL5A1 gene. Gender (P=0.016), age (P=0.011) and the BstUI RFLP (P=0.010) jointly contributed significantly to the optimal SLR model which accounted for 19.3% of the variance. The factors contributing significantly to SR, which accounted for 28.8% of the variance, were weight (P=0.004), age (P<0.001) and the BstUI RFLP (P=0.001). These data suggest that the COL5A1 BstUI RFLP is independently associated with lower limb ROM within the cohort investigated in this study.
UCT/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. malcolm.collins@uct.ac.za
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Collins
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Mokone
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van der Merwe
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Schwellnus
D000125:Achilles Tendon / Q000503:physiopathology; D000328:Adult; D002908:Chronic Disease; D024062:Collagen Type V / Q000235:genetics*; D005260:Female; D015870:Gene Expression / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000502:physiology*; D016059:Range of Motion, Articular / Q000235:genetics*; D013019:South Africa; D055815:Young Adult
C530725:COL5A1 protein, human; D024062:Collagen Type V