Yasser Alakhdar1, Jill Cook, Diana Gallego, Felipe Querol, Iván Chulvi-Medrano, Antonio Alberola, Sergio Hernández-Sánchez. 1. 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; Department of Physiotherapy, Faculty of Health, European University, Valencia, Spain; Physical and Sports Education Department, Faculty of Physical Activity and Sport Sciences, University of Valencia, Valencia, Spain; Department of Physiology, University de Valencia, Valencia, Spain; and Center for Translational Research in Physiotherapy, Department of Pathology and Surgery, Physiotherapy Area, Miguel Hernandez University, San Juan, Alicante, Spain.
Abstract
OBJECTIVE: 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. DESIGN: A case-control, genotype-phenotype association study. SETTING: La Ribera Hospital, Valencia, Spain. PARTICIPANTS: 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. INTERVENTION: Genetic analysis was performed to determine whether there was a relationship between rotator cuff pathology and the genotype. MAIN OUTCOME MEASURES: We hypothesized that the following single nucleotide polymorphisms: COL5a1 rs12722, COL11a1 rs3753841, COL11a1 rs1676486, and COL11a2 rs1799907 would be associated with rotator cuff tendinopathy. RESULTS: A direct relationship between CC genotype and bilateral US pathological images was statistically significant (χ2 = 0.0051) and confirmed by the Fisher test, with a correlation coefficient of 0.345 and a Cramer's v of 0.26. CONCLUSION: 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.
OBJECTIVE: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. DESIGN: A case-control, genotype-phenotype association study. SETTING:La Ribera Hospital, Valencia, Spain. PARTICIPANTS: 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. INTERVENTION: Genetic analysis was performed to determine whether there was a relationship between rotator cuff pathology and the genotype. MAIN OUTCOME MEASURES: We hypothesized that the following single nucleotide polymorphisms: COL5a1rs12722, COL11a1rs3753841, COL11a1rs1676486, and COL11a2rs1799907 would be associated with rotator cuff tendinopathy. RESULTS: A direct relationship between CC genotype and bilateral US pathological images was statistically significant (χ2 = 0.0051) and confirmed by the Fisher test, with a correlation coefficient of 0.345 and a Cramer's v of 0.26. CONCLUSION: A significant association was found between COL5a1rs12722 genotype and rotator cuff pathology, with the CC genotype conferring increased risk of tendon abnormalities and being associated with rotator cuff pathology.