Variation within three apoptosis associated genes as potential risk factors for Achilles tendinopathy in a British based case-control cohort

Rebecca Rickaby, Louis El Khoury, William J Ribbans, Stuart M Raleigh

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Achilles tendon pathology (ATP) is a degenerative condition which exhibits excessive tenocyte apoptosis. Tumour necrosis factor receptor 1 (TNFR1), caspase-3 (CASP3) and caspase-8 (CASP8) are important regulators of apoptosis. To date, the effects of variation within the genes for TNFR1 and CASP3 as risk factors for ATP have not been described. There is evidence that two single nucleotide polymorphisms (SNPs) within the CASP8 gene are associated with ATP, but only in populations from the Southern Hemisphere. The primary aim of this study was to determine whether SNPs within the TNFRSF1A and CASP3 genes were associated with ATP in British Caucasians. We additionally sought to determine whether copy number variation (CNV) within the CASP8 gene was associated with ATP. We recruited 262 (131 ATP cases and 131 asymptomatic controls) Caucasian participants for this genetic association study and used quantitative PCR with chi-squared (χ(2)) tests and ANOVA to detect significant associations. For our entire cohort, we found no association between the TNFRSF1A rs4149577 (p=0.561), CASP3 rs1049253 (p=0.643) and CASP8 variants (p=0.219) and ATP. Likewise, when we tested potential interactions between gender, genotype and the risk of ATP, we found no association with the variants investigated. In conclusion, the TNFRSF1A, CASP3 and CASP8 gene variants were not associated with ATP in British Caucasians.

Original languageEnglish
Pages (from-to)167-171
Number of pages5
JournalMeta Gene
Issue number2
Publication statusPublished - 25 Oct 2015
Externally publishedYes

Bibliographical note

NOTICE: this is the author’s version of a work that was accepted for publication in Meta gene. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Meta gene, [571, 2, (2015)] DOI: 10.1016/j.gene.2015.06.010

© 2015, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International


  • Achilles Tendon
  • Adult
  • Apoptosis
  • Case-Control Studies
  • Caspase 3
  • Caspase 8
  • European Continental Ancestry Group
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Receptors, Tumor Necrosis Factor, Type I
  • Risk Factors
  • Tendinopathy
  • United Kingdom
  • Journal Article
  • Research Support, Non-U.S. Gov't


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