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

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.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 . Tendon homeostasis relies on a dynamic remodeling process influenced by tendon loading and cytokines, among other things. Evidence support the expression and functional involment of pro-inflammatory cytokines such as interleukin-1ß in tissues surrounding mechanically injured tendon 6 . Tendon inflammation and tendinopathy are possible manifestations of a disturbance of this homeostasis. The role of inflammation in tendon healing or failure to heal is complex and not fully understood, but it is known that an initial inflammatory response is required to begin the healing process. On the other hand, cytokines appear to be capable of inducing a failed healing response in several diseases of connective tissue (cartilage, bone, synovial joint) possibly by altering the expression of matrix metalloproteinases 7 . Probably the tendon is no exception, although there are no conclusive data at present on the role of these cytokines in the tendinopathy development 6,7 .The exact incidence of elbow tendinopathy is unknown, but it is estimated to affect 1-3% of adults each year in the lateral elbow 8 and 0.1-0.75% in the medial elbow 9 . It has been reported that the pathogenesis of the medial pathology parallels that of the lateral pathology, with similar patterns of angiofibroblastic degeneration 10 . In athletes, individuals who practice s...

COL5A1 RS12722 Is Associated with Temporomandibular Joint Anterior Disc Displacement without Reduction in Polish Caucasians

“…These results are partly consistent with ours, where only the rs12722 polymorphism was associated with the joint dysfunction, while the female to male ratio was similar to our study. Mohmara et al obtained different findings regarding COL5A1 rs12722 and tennis elbow than those in Altinisik's and our study [27]. There was no significant relationship between rs12722 and lateral elbow tendinopathy, while SNP COL11A1 rs3753841 was associated with elbow tendon pathology.…”

Effects of Heavy Slow Resistance Training Combined With Corticosteroid Injections or Tendon Needling in Patients With Lateral Elbow Tendinopathy: A 3-Arm Randomized Double-Blinded Placebo-Controlled Study

“…33 Moreover, the DASH, the QuickDASH, and some custom simple questions (eg, did you, yes or no started-on pain provoking exercise/or physical activity) were only administered at 26 and 52 weeks’ follow-up. In the present study, most participants were middle-aged and overweight, 2,13 and only a few had sustained lateral elbow tendinopathy from sports activity, as reported in similar studies. 2,9,45…”

“…In the present study, most participants were middle-aged and overweight, 2,13 and only a few had sustained lateral elbow tendinopathy from sports activity, as reported in similar studies. 2,9,45…”

Challenges and perspectives of tendon-derived cell therapy for tendinopathy: from bench to bedside

“…Tendon cells possessing germline mutations or their derivatives (e.g., differentiated tenocytes) may not be suitable as donor cells for cell therapy. Examples include mutations or derivatives of COL5A1, MIR608 [134], TIMP2, MMP3 [135], TNC [136], DEFB1, FGFR1, FGF10 [137], CASP8 [138], GDF5 [139], FGF3, BMP4 [140], ESRRB [141], FCRL3 [142], SASH1, SAP30BP [143], rs71404070 located next to cadherin8 [144], COL11A1 [145], ADAMTS14 [146], ACAN, BGN, DCN, LUM-DCN [111], COL1A1 [147], COL12A1 [148], MMP12 [149], COL3A1 [150], VEGFA [151], FAM111B [152], COL5A3 [153], FBN2 [154] and SPARC [155]. Although the majority of these studies only revealed an association between genetic factors and tendon diseases, with some of them representing contradictory conclusions [150,156], our recent study on identification of a mutation of SPARC in patients with anterior cruciate ligament (ACL) and rotator cuff (RC) injuries [155] has suggested that use of autologous TDSC may not be suitable for treatment of these cohort of patients.…”