Department of Physiotherapy, University of Valencia, Valencia, Spain.
La Trobe Sport and Exercise Medicine Research Centre, Faculty of Health Science, La Trobe University, Victoria, Australia.
Clin J Sport Med. 2023 Sep 1;33(5):e152-e156. doi: 10.1097/JSM.0000000000000937. Epub 2021 May 7.
Tendinopathy is a prevalent condition in young athletes and in older nonathletic people. Recent tendinopathy research has shown a growing interest in the role played by genetic factors, basically genes involved in collagen synthesis and regulation, in view of collagen disorganization typically present in tendon pathologies.
A case-control, genotype-phenotype association study.
La Ribera Hospital, Valencia, Spain.
A group of 137 young athletes (49 with rotator cuff tendon pathology and 88 healthy counterparts) who played upper-limb-loading sports were clinically and ultrasound (US) assessed for rotator cuff tendinopathy were included.
Genetic analysis was performed to determine whether there was a relationship between rotator cuff pathology and the genotype.
We hypothesized that the following single nucleotide polymorphisms: COL5a1 rs12722, COL11a1 rs3753841, COL11a1 rs1676486, and COL11a2 rs1799907 would be associated with rotator cuff tendinopathy.
A direct relationship between CC genotype and bilateral US pathological images was statistically significant (χ 2 = 0.0051) and confirmed by the Fisher test, with a correlation coefficient of 0.345 and a Cramer's v of 0.26.
A significant association was found between COL5a1 rs12722 genotype and rotator cuff pathology, with the CC genotype conferring increased risk of tendon abnormalities and being associated with rotator cuff pathology.
腱病是年轻运动员和非运动员中常见的疾病。最近的腱病研究表明，人们越来越关注遗传因素在其中所起的作用，这些遗传因素主要涉及胶原蛋白的合成和调节，因为在腱病病理中通常存在胶原蛋白的紊乱。
病例对照、基因型-表型关联研究。
西班牙瓦伦西亚拉·里贝拉医院。
一组 137 名年轻运动员（49 名患有肩袖肌腱病，88 名健康对照者）参与了上肢负荷运动，他们接受了肩袖肌腱病的临床和超声（US）评估。
进行基因分析以确定肩袖病理与基因型之间是否存在关系。
我们假设以下单核苷酸多态性：COL5a1 rs12722、COL11a1 rs3753841、COL11a1 rs1676486 和 COL11a2 rs1799907 与肩袖肌腱病有关。
CC 基因型与双侧 US 病理图像之间存在直接关系，具有统计学意义（χ 2 = 0.0051），并通过 Fisher 检验得到证实，相关系数为 0.345，Cramer's v 为 0.26。
COL5a1 rs12722 基因型与肩袖病理之间存在显著关联，CC 基因型增加了肌腱异常的风险，并与肩袖病理相关。
