Influence of genetic factors in elbow tendon pathology: a case-control study

Sci Rep. 2020 Apr 16;10(1):6503. doi: 10.1038/s41598-020-63030-7.


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.

Publication types

  • Observational Study

MeSH terms

  • Adolescent
  • Adult
  • Arthralgia / diagnosis*
  • Arthralgia / genetics
  • Case-Control Studies
  • Collagen Type V / genetics
  • Collagen Type XI / genetics*
  • Disability Evaluation
  • Elbow Joint / diagnostic imaging
  • Elbow Joint / pathology*
  • Female
  • Genetic Predisposition to Disease*
  • Genotyping Techniques
  • Humans
  • Male
  • Pain Measurement
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Sequence Analysis, DNA
  • Tendinopathy / complications
  • Tendinopathy / diagnosis
  • Tendinopathy / epidemiology
  • Tendinopathy / genetics*
  • Tendons / diagnostic imaging
  • Tendons / pathology
  • Ultrasonography
  • Young Adult


  • COL11A1 protein, human
  • COL11A2 protein, human
  • COL5A1 protein, human
  • Collagen Type V
  • Collagen Type XI