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Variability within the human iNOS gene and Achilles tendon injuries: Evidence for a heterozygous advantage effect

Brookes, C., Ribbans, B., El Khoury, L. and Raleigh, S. M. (2020) Variability within the human iNOS gene and Achilles tendon injuries: Evidence for a heterozygous advantage effect. Journal of Science and Medicine in Sport. 23(4), pp. 342-346. 1440-2440.

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Brookes_etal_ELS_2019_Variability_within_the_human_iNOS_gene_and_Achilles_tendon_injuries_Evidence_for_a_heterozygous_advantage_effect.docx - Accepted Version
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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.
Creators:
Brookes, C., Ribbans, B., El Khoury, L. and Raleigh, S. M.
Faculties, Divisions and Institutes:
?? ASSCI ??
Date:
1 April 2020
Date Type:
Publication
Page Range:
pp. 342-346
Journal or Publication Title:
Journal of Science and Medicine in Sport
Volume:
23
Number:
4
Number of Pages:
5
Language:
English
DOI:
10.1016/j.jsams.2019.11.001
ISSN:
1440-2440
Status:
Published / Disseminated
Refereed:
Yes
Related URLs:
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