The COL5A1 Genotype is Associated with Range of Motion Measurements in Older Healthy Active Participants

Abstract

PURPOSE: COL5A1 encodes for the alpha 1 chain of type V collagen, which forms heterotypic fibres with type I collagen - the most prominent protein in connective tissue - and plays an important role in regulating fibre assembly and diameter. Certain heritable disorders of connective tissue, which have a unifying symptom of joint hypermobility, are caused by mutations within COL5A1. In addition, a C/T single nucleotide polymorphism (SNP) (rs12722) within the 3'-untranslated region (3'-UTR) of the CO5A1 gene is associated with chronic Achilles tendinopathy, female ACL ruptures and running endurance performance. Furthermore, this sequence variant is associated with range of motion (ROM) measurements in a mixed injured/uninjured cohort. The aim of this study was to investigate the association between COL5A1 rs12722 and sit and reach (SR) ROM in an apparently healthy and physically active cohort. METHODS: The SR test was performed on 204 male and 121 female white participants, who were genotyped for COL5A1 SNP rs12722 (C/T). RESULTS: The COL5A1 genotype frequency (33.1% TT, 47.4% TC and 19.5% CC) was in HWE (p=0.555). The genotype groups were matched for sex, age, height, weight and the amount of self-reported flexibility or exercise training per week at the time of testing. There was a significant (p=0.007) interaction effect between SR ROM and age, when the T allele (TT and TC genotypes) group was compared to the CC genotype group. When divided into the younger (35 years) participants, the COL5A1 genotype was only associated with SR ROM in older participants (TT: 23 ± 10 cm, N=26; TC: 25 ± 10 cm, N=22; CC: 32 ± 11 cm, N=22; p=0.017). Of all the factors considered to be influencing SR ROM (age, sex, weight, exercise in the 24 hours prior to testing, primary sport participation associated with lower body ROM, self-reported current flexibility and current training, and COL5A1 genotype) only sex (p<0.001) and COL5A1 genotype (p<0.001) were significant independent determinants of SR ROM in the older group (22.8% of the variance). CONCLUSIONS: SNP rs12722 within COL5A1 3'-UTR is associated with SR ROM, particularly with increasing age and is an important contributing factor to ROM variation, particularly in older, apparently healthy and physically active individuals.