Variability within the human iNOS gene and Achilles tendon injuries: Evidence for a heterozygous advantage effect. Issue 4 (April 2020)

• Record Type: Journal Article
• Authors: Brookes, Charlotte; Ribbans, William J.; El Khoury, Louis Y.; Raleigh, Stuart M.
• Is Part Of: Journal of science and medicine in sport. Volume 23:Issue 4(2020)
• Page Start: 342
• Page End: 346
• Publication Date: 2020-04
• Subjects: ANOVA one way analysis of variance -- ATP Achilles tendon pathology -- iNOS inducible nitric oxide synthase -- nNOS neuronal nitric oxide synthase -- eNOS endothelial nitric oxide synthase -- NOS nitric oxide synthase -- NO nitric oxide -- CON control -- TEN tendinopathy -- RUP rupture -- SNP single nucleotide polymorphism -- HWE Hardy Weinberg equilibrium -- GTN glyceral Trinitrate; Nitric oxide -- Genetics -- Apoptosis -- Inflammation -- Achilles tendon; Sports sciences -- Periodicals; Sports medicine -- Periodicals; Exercise -- Physiological aspects -- Periodicals; Sports -- physiology -- Periodicals; Sports Medicine -- Periodicals; Sportgeneeskunde; 617.102705
• DOI: 10.1016/j.jsams.2019.11.001
• Languages: English
• ISSNs: 1440-2440

Abstract

Abstract: Objectives: The aim of this case control genetic association study was to explore whether two variants within the inducible nitric oxide synthase ( iNOS ) gene, rs2779249 (C/A) and rs2248814 (A/G), influenced the risk of Achilles tendinopathy in a British population. Design: Candidate gene, case control association study. Method: We recruited 145 individuals diagnosed with Achilles tendon pathology and 132 asymptomatic controls. All participants were genotyped for the iNOS variants using qPCR and significant associations were discovered using a combination of Chi squared and ANOVA type analysis. Results: The CA genotype of the iNOS rs2779249 variant was protective and conformed to a heterozygous advantage model of inheritance as it was overrepresented in the control participants (p = 0.009). In sex specific analysis the protective association persisted in male participants (p = 0.016) but not in females. Unlike the rs2779249 variant, the rs2248814 variant was not associated with Achilles tendinopathy or Achilles tendon rupture. Conclusion: The rs2779249 CA genotype within the human iNOS gene appears to protect individuals from Achilles tendinopathy. This study further supports a genetic contribution to modifying the risk of Achilles tendon problems. The study also infers an important role for nitric oxide in tendon healing and/or degradation.