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

Research output: Contribution to JournalArticle

Abstract

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 effect 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 (χ2) tests and ANOVA to detect significant associations. We found no association between the TNFRSF1A rs4149577 (p = 0.561), CASP3 rs1049253 (p = 0.643) and CASP8 copy number 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
JournalGene
Volume571
Issue number2
DOIs
Publication statusPublished - 25 Oct 2015

Fingerprint

Tendinopathy
Achilles Tendon
Apoptosis
Pathology
Caspase 8
Caspase 3
Genes
Tumor Necrosis Factor Receptors
Single Nucleotide Polymorphism
Genetic Association Studies
Analysis of Variance
Genotype
Polymerase Chain Reaction

Keywords

  • Apoptosis
  • genotype
  • achilles
  • tendinopathy

Cite this

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title = "Variation within three apoptosis associated genes as potential risk factors for Achilles tendinopathy in a British based case-control cohort",
abstract = "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 effect 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 (χ2) tests and ANOVA to detect significant associations. We found no association between the TNFRSF1A rs4149577 (p = 0.561), CASP3 rs1049253 (p = 0.643) and CASP8 copy number 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.",
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Variation within three apoptosis associated genes as potential risk factors for Achilles tendinopathy in a British based case-control cohort. / Rickaby, Rebecca; El Khoury, Louis; Ribbans, William J; Raleigh, Stuart M.

In: Gene, Vol. 571, No. 2, 25.10.2015.

Research output: Contribution to JournalArticle

TY - JOUR

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AB - 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 effect 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 (χ2) tests and ANOVA to detect significant associations. We found no association between the TNFRSF1A rs4149577 (p = 0.561), CASP3 rs1049253 (p = 0.643) and CASP8 copy number 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.

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