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Variation within three apoptosis associated genes as potential risk factors for Achilles tendinopathy in a British

Rebecca Rickaby1, Louis El Khoury1, William J Ribbans1

  • 1The Centre for Physical Activity and Chronic Disease, The Institute of Health and Wellbeing, University of Northampton, UK.

Gene
|June 10, 2015
PubMed

Insights

Genetic variants in TNFRSF1A, CASP3, and CASP8 genes were not associated with Achilles tendon pathology (ATP) in British Caucasians. This study found no link between these specific gene variations and the degenerative condition.

Area of Science:

  • Genetics
  • Molecular Biology
  • Orthopedics

Background:

  • Achilles tendon pathology (ATP) involves excessive tenocyte apoptosis.
  • Tumour necrosis factor receptor 1 (TNFR1), caspase-3 (CASP3), and caspase-8 (CASP8) are key apoptosis regulators.
  • Previous research suggested CASP8 single nucleotide polymorphisms (SNPs) association with ATP in Southern Hemisphere populations.

Purpose of the Study:

  • To investigate the association between TNFRSF1A and CASP3 gene SNPs and ATP risk in British Caucasians.
  • To examine the relationship between CASP8 gene copy number variation (CNV) and ATP.
  • To determine if gender and genotype interactions influence ATP risk.

Main Methods:

  • Genetic association study involving 262 British Caucasian participants (131 ATP cases, 131 controls).
  • Quantitative PCR used to analyze SNPs in TNFRSF1A, CASP3, and CASP8 genes.
  • Chi-squared tests and ANOVA employed to assess statistical associations.

Main Results:

  • No significant association was found between TNFRSF1A rs4149577, CASP3 rs1049253, or CASP8 variants and ATP in the cohort (p > 0.05).
  • No association was detected between CASP8 CNV and ATP.
  • No interaction effects between gender, genotype, and ATP risk were observed.

Conclusions:

  • The studied TNFRSF1A, CASP3, and CASP8 gene variants are not risk factors for Achilles tendon pathology in British Caucasians.
  • These genetic factors do not appear to play a significant role in ATP development within this specific population.
  • Further research may be needed to explore other genetic or environmental factors contributing to ATP.
Keywords:
AchillesApoptosisGenotypeTendinopathy

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