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Review
. 2022 Apr 29;12(5):663.
doi: 10.3390/life12050663.

Tendon and Ligament Genetics: How Do They Contribute to Disease and Injury? A Narrative Review

William J Ribbans  1   2 , Alison V September  3   4   5 , Malcolm Collins  3   4   5
Affiliations
Review

Tendon and Ligament Genetics: How Do They Contribute to Disease and Injury? A Narrative Review

William J Ribbans et al. Life (Basel). .

Abstract

A significant proportion of patients requiring musculoskeletal management present with tendon and ligament pathology. Our understanding of the intrinsic and extrinsic mechanisms that lead to such disabilities is increasing. However, the complexity underpinning these interactive multifactorial elements is still not fully characterised. Evidence highlighting the genetic components, either reducing or increasing susceptibility to injury, is increasing. This review examines the present understanding of the role genetic variations contribute to tendon and ligament injury risk. It examines the different elements of tendon and ligament structure and considers our knowledge of genetic influence on form, function, ability to withstand load, and undertake repair or regeneration. The role of epigenetic factors in modifying gene expression in these structures is also explored. It considers the challenges to interpreting present knowledge, the requirements, and likely pathways for future research, and whether such information has reached the point of clinical utility.

Keywords: epigenetics; genetics; ligament injury; tendinopathy; tendon injury.

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Conflict of interest statement

The authors declare that no conflict of interest exists.

Figures

Figure 1
Figure 1
A hypothetical diagram showing the complex interaction of numerous genetic factors and extrinsic factors in determining an individual’s specific profile along the ‘reduced to increased risk (predisposed) spectrum’.
Figure 2
Figure 2
The Jar Model. Accumulative risk factors for developing chronic tendon and ligament disease. Adapted from the ‘Jar Model’ of Jehannine Austin used in psychiatric genetic counselling (Austin, 2008) [7].
Figure 3
Figure 3
Hierarchical structure of the tendon.
See this image and copyright information in PMC

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