Single Nucleotide Polymorphisms and Tendon/Ligament Injuries in Athletes: A Systematic Review and Meta-analysis

Int J Sports Med. 2025 Jan;46(1):3-21. doi: 10.1055/a-2419-4359. Epub 2024 Oct 22.

Abstract

This systematic review and meta-analysis aimed to identify the association between genetic polymorphisms and tendon and ligament injuries in adolescent and adult athletes of multiple competition sports. The PubMed, Web of Science, EBSCO, Cochrane Library, and MEDLINE databases were searched until July 7, 2023. Eligible articles included genetic studies on tendon and ligament injuries and comparisons between injured and non-injured athletes. This review included 31 articles, comprising 1,687 injury cases and 2,227 controls, from a meta-analysis of 12 articles. We identified 144 candidate gene polymorphisms (only single nucleotide polymorphisms were identified). The meta-analyses included vascular endothelial growth factor A (VEGFA) rs699947, collagen type I alpha 1 rs1800012, collagen type V alpha 1 rs12722, and matrix metalloproteinase 3 rs679620. The VEGFA rs699947 polymorphism showed a lower risk of injuries in athletes with the C allele ([C vs. A]: OR=0.80, 95% CI: 0.65-0.98, I 2 =3.82%, p=0.03). The risk of these injuries were not affected by other polymorphisms. In conclusion, the VEGFA rs699947 polymorphism is associated with the risk of tendon and ligament injuries in athletes. This study provides insights into genetic variations that contribute to our understanding of the risk factors for such injuries in athletes.

Publication types

  • Systematic Review
  • Meta-Analysis

MeSH terms

  • Athletic Injuries* / genetics
  • Collagen Type I, alpha 1 Chain
  • Collagen Type V / genetics
  • Humans
  • Ligaments / injuries
  • Matrix Metalloproteinase 3 / genetics
  • Polymorphism, Single Nucleotide*
  • Tendon Injuries* / genetics
  • Vascular Endothelial Growth Factor A* / genetics

Substances

  • Vascular Endothelial Growth Factor A
  • Matrix Metalloproteinase 3
  • VEGFA protein, human
  • Collagen Type V
  • Collagen Type I, alpha 1 Chain
  • COL5A1 protein, human
  • MMP3 protein, human