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.
Scand J Med Sci Sports. 2011 Dec;21(6):e266-72. doi: 10.1111/j.1600-0838.2010.01271.x. Epub 2011 Mar 1.
Increased and decreased joint range of motion (ROM) are modifiable risk factors for musculoskeletal soft-tissue injuries. Certain heritable disorders of connective tissue, which have a unifying symptom of joint hypermobility, are caused by mutations within the COL5A1 gene. Furthermore, the COL5A1 BstUI restriction fragment length polymorphism (RFLP) sequence variant is associated with ROM measurements in a mixed injured/uninjured cohort. The association between COL5A1 BstUI RFLP and sit and reach (SR) ROM in an apparently healthy and physically active cohort was investigated. The SR test was performed on 325 white subjects (204 males). Subjects were also genotyped for the BstUI RFLP (C/T) within the 3'-untranslated region of the COL5A1 gene. The COL5A1 BstUI RFLP genotype was associated with SR ROM in older (≥35 years) subjects (TT: 225 ± 96 mm, TC: 245 ± 100 mm, CC: 32 ± 108 mm, N=96, P=0.017). Age and COL5A1 BstUI genotype interacted significantly for SR ROM. Sex and COL5A1 genotype accounted for 22.8% of the variance in SR ROM in the older group. The COL5A1 BstUI RFLP 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.
关节活动度（ROM）增加和减少是肌肉骨骼软组织损伤的可改变危险因素。某些具有关节过度活动共同症状的结缔组织遗传性疾病是由 COL5A1 基因突变引起的。此外，COL5A1 BstUI 限制片段长度多态性（RFLP）序列变体与混合损伤/未损伤队列中的 ROM 测量值相关。研究了 COL5A1 BstUI RFLP 与坐立伸展（SR）ROM 之间在明显健康和活跃的人群中的关联。对 325 名白种受试者（204 名男性）进行了 SR 测试。还对 COL5A1 基因 3'-非翻译区的 BstUI RFLP（C/T）进行了基因分型。COL5A1 BstUI RFLP 基因型与年龄较大（≥35 岁）受试者的 SR ROM 相关（TT：225±96mm，TC：245±100mm，CC：32±108mm，N=96，P=0.017）。年龄和 COL5A1 BstUI 基因型对 SR ROM 有显著的交互作用。在年龄较大的组中，性别和 COL5A1 基因型占 SR ROM 变异性的 22.8%。COL5A1 BstUI RFLP 与 SR ROM 相关，特别是与年龄增加有关，是 ROM 变异性的重要影响因素，特别是在年龄较大、明显健康和活跃的个体中。
