Applying personal genetic data to injury risk assessment in athletes

Abstract

Recent studies have identified genetic markers associated with risk for certain sports-related injuries and performance-related conditions, with the hope that these markers could be used by individual athletes to personalize their training and diet regimens. We found that we could greatly expand the knowledge base of sports genetic information by using published data originally found in health and disease studies. For example, the results from large genome-wide association studies for low bone mineral density in elderly women can be re-purposed for low bone mineral density in young endurance athletes. In total, we found 124 single-nucleotide polymorphisms associated with: anterior cruciate ligament tear, Achilles tendon injury, low bone mineral density and stress fracture, osteoarthritis, vitamin/mineral deficiencies, and sickle cell trait. Of these single nucleotide polymorphisms, 91% have not previously been used in sports genetics. We conducted a pilot program on fourteen triathletes using this expanded knowledge base of genetic variants associated with sports injury. These athletes were genotyped and educated about how their individual genetic make-up affected their personal risk profile during an hour-long personal consultation. Overall, participants were favorable of the program, found it informative, and most acted upon their genetic results. This pilot program shows that recent genetic research provides valuable information to help reduce sports injuries and to optimize nutrition. There are many genetic studies for health and disease that can be mined to provide useful information to athletes about their individual risk for relevant injuries.

Fig 1. Areas of Interest for Genetic Markers.

Six sports related categories were tested in athletes that relate to different injuries or attributes in different locations of the human body. For each category we list the number of associated single nucleotide polymorphisms (SNPs) that we reported on as well as the overall effect size, based on odds ratios or β-coefficients, for having a genetic risk in that category.

Fig 2. Example Summary of an Athlete's Genetic Profile.

Each athlete was given information related to the categories tested. The summary page gives four color-coded risk levels for each trait: decreased risk (green), average (black), slightly increased risk (yellow), or increased risk (red). Further information, including background information, injury mechanism, genetic basis, and prevention strategies was accessible by clicking on the category in the side menu.