Variation within three apoptosis associated genes as potential risk factors for Achilles tendinopathy in a British based casecontrol cohort. Gene. 571(2), pp. 167171. 03781119.It is advisable to refer to the publisher's version if you intend to cite from this work. Achilles tendon pathology (ATP) is a degenerative condition which exhibits excessive 30 tenocyte apoptosis. Tumour necrosis factor receptor 1 (TNFR1), caspase-3 (CASP3) and 31 caspase-8 (CASP8) are important regulators of apoptosis. To date, the effect of variation 32 within the genes for TNFR1 and CASP3 as risk factors for ATP have not been described. 33 Version: Accepted versionThere is evidence that two single nucleotide polymorphisms (SNPs) within the CASP8 gene 34 are associated with ATP, but only in populations from the Southern Hemisphere. The primary 35 aim of this study was to determine whether SNPs within the TNFRSF1A and CASP3 genes 36were associated with ATP in British Caucasians. We additionally sought to determine 37 whether copy number variation (CNV) within the CASP8 gene was associated with ATP. We 38

To our knowledge, this is the first study to investigate how DNA methylation impacts on the risk of human tendinopathy. Our data indicate that the methylation status of the ADAMTS4 gene is altered in patellar tendinopathy and we speculate on how this change might modify the patellar tendon extra-cellular matrix environment.