Abstract
Elbow tendinopathy is a common pathology of the upper extremity that impacts both athletes and workers. Some research has examined the genetic component as a risk factor for tendinopathy, mainly in the lower limbs. A case-control study was designed to test for a relationship between certain collagen gene single nucleotide polymorphisms (SNPs) and elbow tendon pathology. A sample of 137 young adult athletes whose sports participation involves loading of the upper limb were examined for the presence of structural abnormalities indicative of pathology in the tendons of the lateral and medial elbow using ultrasound imaging and genotyped for the following SNPs: COL5A1 rs12722, COL11A1 rs3753841, COL11A1 rs1676486, and COL11A2 rs1799907. Anthropometric measurements and data on participants’ elbow pain and dysfunction were collected using the Disabilities of the Arm, Shoulder and Hand and the Mayo Clinic Performance Index for the Elbow questionnaires. Results showed that participants in the structural abnormality group had significantly higher scores in pain and dysfunction. A significant relationship between COL11A1 rs3753841 genotype and elbow tendon pathology was found (p = 0.024), with the CT variant associated with increased risk of pathology.
Highlights
Elbow tendinopathy is a common pathology of the upper extremity that impacts both athletes and workers
Considering the existing literature on the relationship between genetic factors and tendinopathy, this study aims to examine the association of different single nucleotide polymorphisms (SNPs) genotypes with structural abnormalities indicative of elbow tendon pathology, namely COL5A1 rs12722, COL11A1 rs3753841, COL11A1 rs1676486 and COL11A2 rs1799907, selected in order to compare results with previous studies on patellar[24,31], Achilles[13,25] and elbow tendinopathies[14]
We were able to remove the subjectivity inherent in patients’ reporting of symptoms when sorting participants into groups. While this may not reflect the typical procedure in real-life clinical practice, imaging is the only method to confirm tendinopathy as symptoms are variably associated with pathology[32], and such a comparatively objective measure of pathology is advantageous in the search for risk factor relationships
Summary
Elbow tendinopathy is a common pathology of the upper extremity that impacts both athletes and workers. A sample of 137 young adult athletes whose sports participation involves loading of the upper limb were examined for the presence of structural abnormalities indicative of pathology in the tendons of the lateral and medial elbow using ultrasound imaging and genotyped for the following SNPs: COL5A1 rs12722, COL11A1 rs3753841, COL11A1 rs1676486, and COL11A2 rs1799907. Tendinopathy is a common condition that affects a large portion of the population, making up 30% of all musculoskeletal injuries[1] and being the most prevalent tendon disorder[2] It is generally defined as an overuse injury resulting in tendon degeneration after a failed early inflammatory healing response[3], leading to collagen disorientation and disorganization in the absence of classic inflammatory changes, accompanied by pain and dysfunction[4,5]. The primary isoform of type XI is a heterotrimer consisting of an α1 chain and an α2 chain (COL11A1 and COL11A2, respectively), plus an α2 chain from type II; these molecules form strong crosslinks between tendon cells and help maintain the spacing and diameter of type II collagen fibrils
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