Is There a Correlation Between Single Nucleotide Polymorphisms and a Greater Susceptibility of the Achilles Tendon Rupture?
Authors: Pękala Jakub R. , Zarzecki Michał P. , Pękala Przemysław A. , Paziewski Mateusz , Walocha Jerzy A. , Tomaszewski Krzysztof A. 
Published: June 2021

IntroductionAchilles tendon (AT) rupture may occur as a sport injury or at rest, what creates a significant burden of expensive surgeries and considerable recovery time. Many factors may contribute to the AT's rupture, such as e.g. nicotine, steroids or renal disease. Notwithstanding, genetic factors, poorly researched in the past, might be associated with a greater predisposition for tendinopathy. Single nucleotide polymorphisms (SNPs) may discern possible predispositions towards certain conditions. Genes known to influence the tendon biomechanical properties include: matrix metallopeptidase 1 (MMP1), matrix metallopeptidase 1 (MMP3), as well as COL5A1, and COL12A1.AimThis study aimed to evaluate the correlation between the specific SNPs and the biomechanical properties of the AT, analysed by the stress test.Materials and methods50 ATs were acquired from 25 male patients. The DNA from the specimens was extracted using Xpure Genomic Mini. The PCR primers were designed using Primer3Plus computer software to enable simultaneous amplification of 5 amplicons covering DNA variants: rs970547, rs240736 in COL12A1, rs12722 in COL5A1, rs1799750 in MMP1 and rs3025058 in MMP3. The purified PCR products were subjected to single base extension reactions using the SNaPshot protocol. The products of these reactions were purified with FastAP Thermosensitive Alkaline Phosphatase and analysed on a Genetic Analyzer using the protocol for SNP analysis. The biomechanical analysis of the ATs involved their careful separation into 3 subtendons that were then evaluated using the INSTRON® tension testing machine configured with a 10kN maximum capacity load cell. The stiffness of the AT samples was evaluated in terms of its Young's modulus, calculated from the strain curves. The study protocol was approved by the local Ethics Committee in accordance with the 1964 Declaration of Helsinki and its later amendments.ResultsHaving performed the genetic and biomechanical analysis, a strong relationship between the SNPs and the greater durability of the ATs was found in terms of the rs240736 and the rs1799750 polymorphisms. Some relationship was also noted in case of the rs3025058, but its significance remains unclear and requires further research. None of the other SNPs studied provided any statistically significant results for the correlation.ConclusionsTo the best knowledge of the authors, this is the first study that shows correlation between the SNPs and biomechanical properties of the AT (in terms of the rs240736 and the rs1799750 with the greater durability of the AT). Such genetic studies might serve to identificate predispositions towards the AT rupture and enabling genetically‐driven studies to improve the patient care.Support or Funding InformationThis study was supported by “The Best of the Best! (Najlepszy z Najlepszych!)” Grant of the Polish Ministry of Science and Higher Education.This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.