The genetics of sports injuries and athletic performance

Nicola Maffulli, Katia Margiotti, Umile Giuseppe Longo, Mattia Loppini, Vito Michele Fazio, Vincenzo Denaro

Research output: Contribution to journalArticlepeer-review


Purpose: In the last two decades, several evidences have been provided to support the relationship between single nucleotide polymorphisms and the susceptibility to develop injuries participating in sport and performance related to sports activity. We report up-to-date review of the genetics factors involved in tendon injuries and athletic performance. Methods: We searched PubMed using the terms "sports injuries", "athletic performance" and "genetics" over the period 1990 to the present day. We also included non-English journals. Results: Most of the currently established or putative tendinopathy susceptibility loci have been analyzed by candidate gene studies. The genes currently associated with tendon injuries include gene encoding for collagen, matrix metallopeptidase, tenascin and growth factors. Several genes have been related to the physical performance phenotypes affecting endurance capacity and muscle performance. The most studied include ACE and ACTN3 genes. Conclusions: Genetics determines the response of an individual to the surrounding environment. Recently, some of the individual genetic variations contributing to the athletic performance and the onset of musculoskeletal injuries, particularly in tendon and ligament tissues, have been identified. However, the identification of the genetic background related to susceptibility to injuries and physical performance of the athletes is challenging yet and further studies must be performed to establish the specific role of each gene and the potential effect of the interaction of these.

Original languageEnglish
Pages (from-to)173-189
Number of pages17
JournalMuscles, Ligaments and Tendons Journal
Issue number3
Publication statusPublished - Jul 2013


  • Athletic performance
  • Genetics
  • Single nucleotide polymorphisms
  • Sports injuries

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine


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