The regular demands of training and competition make professional, collegiate, and recreational athletes highly susceptible to injury.
Injury is a fact of life for most athletes, but some professionals—and some weekend warriors —just seem more injury-prone than others. But what is it about their bodies that makes the bones, tendons, and ligaments so much more likely to tear or strain—bad luck, or just poor preparation?
A growing body of research suggests another answer: that genetic makeup may play an important role in injury risk.
Recreational distance running causes high numbers of injuries, with incidence rates estimated between 30% and 75% per person per year.
Treatment of sports injuries costs at least $160 billion per year in the U.S. and Major League Baseball lost $1.6 billion in payroll between 2008 and 2013 because of injuries to players. Avoiding injuries and remaining healthy is key to the success of a team or an individual athlete.
The potential to use genetic testing to reduce sports injuries
The COL1A1 gene, for example, encodes the alpha chain of type I collagen, the major protein component of all tendons and ligaments. It’s associated with vasodilation, blood pressure control, efficiency of muscular contraction and cell hydration.
The GT alleles have a moderately raised risk of tendon and ligament injuries in sport. They need to undertake pre-habilitative exercises relevant to the sports they participate in and consider nutritional support for connective tissue. They will have reduced response to endurance training and should make sure they stay sufficiently hydrated during endurance activities.
The GG will have an increased risk for tendon and ligament injuries and ruptures and or shoulder dislocations especially related to sports participation. They should also undertake pre-habilitative exercises relevant to the sports they participate in and consider nutritional support for connective tissue. They will have reduced response to endurance training and should make sure they stay sufficiently hydrated during endurance activities.
The TT variants contribute to positive response to endurance training. They are positive for increased muscle efficiency especially in conjunction with ACE I-allele. The T allele leads to increased expression of type I collagen alpha polypeptides compared with the G nucleotide, which may increase the tensile strength of tendons and ligaments. About 4% of athletes carry 2 copies of the T allele.
(90% of people who have brittle bone disease have mutations in COL1A1 and COL1A2. I’m sure these folks would have liked to know early on so they could have taken preventive measures.)
Besides polymorphisms in COL1A1, there are additional DNA variants associated not only with ACL rupture and Achilles tendinopathy but also with other athletic injuries (shoulder dislocations and muscle strain severity). It is important to note here that there are antibiotics that can flox genes and cause serious injuries, ruptures of the Achilles tendons and other tendons and even disability. To learn more about fluoroquinolones like Cipro and Levaquin click here. (Pharmacogenetic screenings can identify contraindication with prescription medications.)
The gene COL5A1 encodes the protein collagen alpha-1(V) chain. It is a minor connective tissue component but of ubiquitous distribution. Type V collagen binds to DNA, heparin sulfate, thrombospondin, heparin, and insulin. Defects in COL5A1 are a cause of Ehlers-Danlos syndrome (EDS1).
A functional skeletal system requires the coordinated development of many different tissue types, including cartilage, bones, joints, and tendons. Members of the Bone morphogenetic protein (BMP) family of secreted signaling molecules have been implicated as endogenous regulators of skeletal development. This is based on their expression during bone and joint formation, their ability to induce ectopic bone and cartilage, and the skeletal abnormalities present in animals with mutations in BMP family members. One member of this family, Growth/differentiation factor 5 (GDF5).
IL-6 mutations can be involved with other mutations like CRP and TNF in autoimmune disorders like Epstein Barr if the athlete has the mutation and is overtraining.
IL-6R is associated with immune response and cell growth. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer.
C-Reactive protein (CRP) is associated with acute phase protein and rises in response to inflammation in the body. Elevation in CRP concentration will aid in determining the severity of acute tissue injury.
The genetic variant Tumor Necrosis Factor (TNF) causes over-inflammation. There is data suggesting that TNF may exacerbate neurobehavioral deficits and tissue damage. If an athlete is over-training it could be involved in autoimmune disease.
Acute traumatic joint injury increases the risk of developing osteoarthritis. Elevated levels of TNF and IL-6 have been detected in joint injuries.
There are separate studies concerning genetic polymorphisms associated with athletic performance, such as muscle contractility and V̇O2 max. Genetic information of this sort has recently been used to prevent injuries and maximize athletic performance. A professional soccer team in the English Premier League, for example, tested athletes for genetic loci associated with sports performance, and the English Institute of Sport expressed interest in providing genetic testing to Britain’s Olympic athletes in 2012.
The future holds promise for everyone. Someone with limited genetic potential can find ways to compensate and become a solid performer and athletes who are lucky to have exceptional genetics can optimize them.
Trainers and professionals can use this information to help optimize their clients and patients.
I think this is the best genetic lifestyle screening on the market because of the genetic scientist behind it, Dr. Keith Grimaldi. I know his integrity and ethics. He will not put genes in his screening that haven’t been tested with 3 independent clinical placebo studies proving a change in genetic expression influenced by a change in lifestyle.
If you would like to integrate this screening into your practice to improve patient outcomes, I’d be happy to offer you a complementary proposal. Contact me at Kathy@CriticalHealth.org or 617.515.7559.
If you would like to use this screening to develop an action plan for your own optimal health, I’d be happy to offer it to you with my complementary services for a review of results. Contact me at Kathy@CriticalHealth.org or 617.515.7559.
General Timeline of Genetic Training in Sports
|1966 – 1991||Y-chromosomal testing as part of official sex segregation.|
|2001||Policy of the International Association of Athletics Federations and of the International Olympic Committee, respectively.|
|2001||Professional Boxing and Martial Arts Board of Victoria considers compulsory genetic screening for APOE4 variant in boxers.|
|2003||World Anti-doping Agency prohibits methods of gene doping.|
|2005||Eighteen Australian male rugby players were tested and analyzed for 11 genes.
The Chicago Bulls attempt genetic testing of free agent, Eddy Curry, for the purpose of ruling out hypertrophic cardiomyopathy.
|2009||23andMe analyzes DNA samples from 100 current and former NFL linemen.
Major League Baseball begins using genetic testing with prospective players from the Dominican Republic and other Latin American Countries.
|2010||The National Collegiate Athletic Association implements mandatory sickle cell trait screening.|
|2011||An English Premier League soccer team analyzes players’ DNA samples at 100 genetic loci.
The National Football League screens for genetic conditions sickle cell trait and G6PD under the 2011 NFL collective bargaining agreement.
|2012||2012 English Institute of Sport expresses interest in the integration of genetic technologies to “tailor the training, conditioning, and preparation” of Britain’s Olympic and Paralympic athletes.|
|2014||Two Barclay’s Premier League soccer teams commission tests of their players’ DNA for 45 variants.|