Introduction

The COL5A1 gene encodes for the α1 chain of type V collagen, a minor fibrillar collagen that is an important regulator of collagen fibrillogenesis. Several polymorphisms, including rs12722 (C/T), within the 3′-UTR of COL5A1 are associated with chronic Achilles tendinopathy and other musculoskeletal soft tissue injuries as well as exercise-related phenotypes. It is hypothesised that polymorphisms within the 3′-UTR regulate the amount of the α1(V) chain synthesised and type V collagen production. This in turn influencing the mechanical properties of tendons and other musculoskeletal soft tissues. In our laboratories, two major functional forms, namely the T- and C-allelic forms of the COL5A1 3′-UTR, were identified and associated predominately with severe chronic Achilles tendinopathy and healthy asymptomatic control individuals, respectively.

The incidence of acute and chronic conditions of the tendo Achillis appear to be increasing. Causation is multifactorial but the role of inherited genetic elements and the influence of environmental factors altering gene expression are increasingly being recognised. Certain individuals’ tendons carry specific variations of genetic sequence that may make them more susceptible to injury. Alterations in the structure or relative amounts of the components of tendon and fine control of activity within the extracellular matrix affect the response of the tendon to loading with failure in certain cases.

This review summarises present knowledge of the influence of genetic patterns on the pathology of the tendo Achillis, with a focus on the possible biological mechanisms by which genetic factors are involved in the aetiology of tendon pathology. Finally, we assess potential future developments with both the opportunities and risks that they may carry.

Cite this article: Bone Joint J 2013;95-B:305–13.

Purpose: The goal of this study is to compare patients’ perception of their hip or knee joint following joint replacement surgery.

Method: A total of 357 patients who underwent hip or knee joint surgery were included in the study. Of the patients who had knee replacement surgery, 46 had unicompartmental knee replacement (UKR) and 119 had total knee replacement (TKR). In the group of patients who had hip replacement surgery, 98 underwent hip resurfacing (SRA) and 97 had total hip replacements (THR). The perception patients had of their replaced articulation as well as functional outcome scores such as the WOMAC and SF-36 were measured at one year post-surgery and compared between the four groups.

Results: Although global satisfaction and clinical outcome scores were excellent in all four groups, WOMAC scores at 1–2 year follow-up were significantly different between hip or knee replacement surgery (p< 0.0001). Also, the perception that patients had of their reconstructed joint was significantly different between the hip and knee groups (p< 0.001). Half of patients from the hip group considered their replaced hip “as a natural joint” and 76% considered their joint as having no functional limitations compared to only 19% and 39% respectively for the knee group. Of patients with knee joint surgery, 14% (20/165) considered their joint as “artificial with important limitations” as opposed to only 1% (2/195) of those who had hip joint surgery. There were no significant differences in Womac scores or perception when comparing TKR and UKR or THR and SRA patients. Perception was strongly correlated to Womac scores for all four groups (R²=0.951).

Conclusion: Hip and knee joint replacement surgery are recognized as highly effective medical interventions in terms of cost/benefit ratio in current medical practice. It is remarkable to see that replacement of each of these articulations can yield vastly different results in terms of patient function, perception and satisfaction. From this study, it is clear that research in prosthetic development and surgical techniques should be focused on the interventions such as knee joint replacement, which are not yet capable of offering both a high level of function and satisfaction to patients.