COL5A1 rs12722 polymorphism is not associated with passive muscle stiffness and sports-related muscle injury in Japanese athletes

Abstract

BackgroundPoor joint flexibility has been repeatedly proposed as a risk factor for muscle injury. The C-to-T polymorphism (rs12722) in the 3′-untranslated region of the collagen type V α1 chain gene (COL5A1) is reportedly associated with joint flexibility. Flexibility of a normal joint is largely determined by passive muscle stiffness, which is influenced by intramuscular collagenous connective tissues including type V collagen. The present study aimed to test the hypothesis that the COL5A1 rs12722 polymorphism influences joint flexibility via passive muscle stiffness, and is accordingly associated with the incidence of muscle injury.MethodsIn Study 1, we examined whether the rs12722 polymorphism is associated with joint flexibility and passive muscle stiffness in 363 healthy young adults. Joint flexibility was evaluated by passive straight-leg-raise and sit-and-reach tests, and passive muscle stiffness was measured using ultrasound shear wave elastography. In Study 2, the association of the rs12722 polymorphism with sports-related muscle injury was assessed in 1559 Japanese athletes. Muscle injury history and severity were assessed by a questionnaire. In both Study 1 and Study 2, the rs12722 C-to-T polymorphism in the COL5A1 was determined using the TaqMan SNP Genotyping Assay.ResultsStudy 1 revealed that the rs12722 polymorphism had no significant effect on range of motion in passive straight-leg-raise and sit-and-reach tests. Furthermore, there was no significant difference in passive muscle stiffness of the hamstring among the rs12722 genotypes. In Study 2, rs12722 genotype frequencies did not differ between the muscle injury and no muscle injury groups. Moreover, no association was observed between rs12722 polymorphism and severity of muscle injury.ConclusionsThe present study does not support the view that COL5A1 rs12722 polymorphism has a role as a risk factor for sports-related muscle injury, or that it is a determinant for passive muscle stiffness in a Japanese population.

Genetic factors in rotator cuff pathology: potential influence of col 5A1 polymorphism in outcomes of rotator cuff repair

“…This data suggest that T allele is involved in the synthesis of more type V collagen α1 chain than other polymorphism, resulting in changes in the mechanical properties of the connective tissue [48]. In this study patients with TT genotype showed a ROM of passive external rotation statistically significantly lower compared to other analyzed genotypes, supporting the hypothesis that the T allele of the COL5A1 rs12722 polymorphism is associated with high muscle stiffness [49]. ClinVar database characterized COL5A1 rs12722 polymorphism as benign (National Center for Biotechnology Information.…”

Genetic variations associated with non‐contact muscle injuries in sport: A systematic review

“…While three studies also included children, their results obtained in adult subjects met our inclusion criteria 26,37,38 . Eleven studies included men exclusively, 22–29,33,37,38 one study only females 31 and five both genders 30,32,34–36 . A summary of the study characteristics is provided in Table 1.…”

“…Eight studies assessed the link between genetic polymorphisms and NCMI risk (injured subjects vs. non‐injured subjects), 30–37 eight studies between genetic polymorphisms and NCMI incidence, 22–27,36,38 12 between genetic polymorphisms and injury severity, 22–29,35–38 and three between genetic polymorphisms and recovery time 22,27,28 …”

“…Methodological quality scores of the studies reviewed ranged from 11/15 to 15/15 on the McMaster scale. This quality was classed as high in one study (6%) 38 and excellent (94%) in the remaining 16 studies 22–37 . However, due to variability of methodologies and data analysis, a meta‐analysis was not possible.…”

Female Athletes Genetically Susceptible to Fatigue Fracture Are Resistant to Muscle Injury: Potential Role of COL1A1 Variant

“…The specific mechanism by which the rs1107946 polymorphism influences the observed muscle phenotypes in females remains unclear. However, sex differences have been reported in joint flexibility and muscle stiffness ( 38 , 39 ), wherein females exhibit greater joint flexibility and lower muscle stiffness than males. These differences may be related to sex hormones such as estrogen.…”