May 2011

Researchers make early progress toward understanding genetics of sports injuries

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Genetics may be the final frontier of sports injury prevention, and researchers are only beginning to explore it. But investigators from South Africa are slowly making progress in identifying specific gene variants associated with risk of anterior cruciate ligament injury or Achilles tendinopathy.

Researchers from the University of Cape Town have previously linked the COL5A1 gene to risk of ACL injury and the MMP3 gene to AT. But when studying heterogeneous conditions, a single gene is only one piece of a complex genetic puzzle.

“Multifactorial phenotypes are more likely to be polygenic,” said Mike Posthumus, PhD, a research fellow in exercise science and sports medicine at the University of Cape Town.

In Monaco in April, Posthumus presented findings that two genotypes of the MMP12 gene were significantly less likely to be present in 54 subjects with noncontact ACL injuries than in 216 control subjects.

Further down the kinetic chain, another Cape Town study found that variations within interleukin genes combined with one COL5A1 genotype were associated with AT. And a third study found that a polygenic profile based on scoring the presence or absence of five single nucleotide polymorphisms, could discriminate between 69 AT patients and 93 controls.

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