Investigating the role of ELN rs2071307 gene variant as a risk factor for Achilles Tendon Pathologies in a British Cohort

Louis El Khoury, Bill Ribbans, Stuart M Raleigh

    Research output: Contribution to ConferencePosterpeer-review

    Abstract

    Injuries to the Achilles tendon (tendinopathies or ruptures) are considered as ones of the most severe musculoskeletal traumas in sports with an incidence rate of 50% in athletes and 10% in the general population. A number of gene variants coding for tendon structural proteins such as COL5A11 and FBN22 have previously been associated with Achilles tendon pathologies (ATP). These protein along with others maintain a harmonious interaction with elastin to allow tendons to respond to tensile load by stretching and returning to their original lengths. The ELN rs2071307 variant has been associated with soft tissue pathologies and is believed to be a good candidate gene as it results in the substitution of the hydrophobic amino acid glycine with the hydrophilic serine. However, in a previous study this variant was not associated with either Achilles tendinopathy or ACL rupture in populations from Australia and South Africa2. As recent evidence suggests that genetic risk factors for tendinopathy may depend, to some extent, on geographic location 3, the aim of this study was to determine whether the ELN rs2071307 variant was associated with the risk of ATP in a British cohort.
    Original languageEnglish
    Publication statusPublished - Oct 2016
    EventISTS 2016. 4th International Scientific Tendinopathy Symposium - Cape Town, South Africa
    Duration: 22 Oct 201624 Oct 2016

    Conference

    ConferenceISTS 2016. 4th International Scientific Tendinopathy Symposium
    CountrySouth Africa
    CityCape Town
    Period22/10/1624/10/16

    Keywords

    • achilles tendinopathy
    • Genetics
    • Orthopaedic Surgery
    • Foot and Ankle
    • Sports Injury
    • Sports Medicine

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