An individual’s DNA plays a role in everything from their eye colour to how their body processes vitamins. Over the past couple of years, some genetic markers have been identified and linked to susceptibilities to various injury. As athletes put their bodies on the line each time they step onto the track, court or field, access to this genetic information is an asset for both athletes and coaches during training and competition.
Members of the global scientific community are working to identify more of these markers and unravel the mystery of the human genome. These discoveries will continue to have practical applications in the world of sports, specifically how an individual's genetic makeup affects how their body adapts to external factors and stressors like diet, sleep and training.
The science department at Athletigen Technologies, led by Dr. Ian Zinck, is committed to the perpetual research and analysis of genetic-environment interactions. “We are continually gathering the work of academics across the globe to understand how genetic differences correlate with various trait outcomes. In collaboration with our partners, we are further validating previously identified gene-trait interactions while discovering novel correlations to investigate,” said Dr. Zinck.
While these discoveries are being further validated, the science department developed a lettered-ranking system to rate the scientific validity of each gene’s reported effect based on current research. “The confidence grade that we assign to each genetic outcome is determined by several factors: the amount of studies that replicated the same findings, the number of individuals within each group, and the ethnic diversity in which the correlation has been studied,“ said Dr. Zinck.
The Athletigen ranking system is rigorous, often more so than - or equal to - current standards in the scientific-research community. For a gene marker to receive an A grade, the marker-trait associations must have been replicated at least 3 times by independent studies with more than 1000 participants each and requires at least one of these studies to have contrasted the associations among multiple ethnicities.
Among other genetic markers associated with sleep, response to training, sport psychology, and nutritional factors, Athletigen’s genetic summaries currently report on three markers that may be associated with injury.
The association between the rs12722 marker in the COL5A1 gene and tendon injury has been examined in more than 10 studies, ranging in participant size from 50 people to more than 1000. These studies have shown that if an individual has the TT genotype for rs12722, they may be more prone to tendon injury than the average person. The Athletigen’s science department has given this marker an “A” rating for scientific validity, reflecting large numbers of participants, and consistent findings throughout 10 different studies.
The COL5A1 gene is responsible for producing a key component of collagen required for proper tendon fibre assembly. The TT genotype for rs12722 may result in weaker tendon fibres, generally less flexibility of the lower body, and an increased susceptibility to injury when compared to the average person.
This genotype can have negative effects on people whose sport or training involves repetitive movements of the elbow or wrist, like in tennis. Similarly, activities involving heavy use of the Achilles tendon - like sprinting - can expose the tendon to a higher risk of injury compared to the risk faced by the average person.
Strength training the supporting muscle groups around these tendons can reduce their susceptibility to injury. In a 2016 study, titled “A Delphi study of risk factors for achilles tendinopathy - Opinions of the world tendon experts,” published in the International Journal of Sports Physical Therapy, 14 renowned experts in tendon physiology and injury were asked whether they considered strength training of the Triceps Surae group as preventative for the development of Achilles tendinopathy in active or athletic patients. Eight said yes, three were unsure and two disagreed.
From a biomechanical standpoint, premature loading (running on toes), along with excessive torsion (uncontrolled hyperpronation) place undue stress on achilles tendon. Excessive pronation can also result from poor pelvic stability in the frontal plane (knee valgus). This can be positively affected with exercise focused on strengthening the glutes (Unilateral based exercises), as well as working on running/walking technique. The integrity of the arch is also important, for those that have an “acquired” flat foot strengthening the intrinsic muscles of the foot and working on coordination for the lower extremity may be helpful as well.
The Athletigen science department believes strength training of the lower extremity (tibialis anterior/posterior, triceps surae, foot intrinsics,) may have a protective effect. It is unclear exactly how protective that training may be as it has not been quantified in research adequately.
The rs1800012 marker in the COL1A1 gene plays a role in the development of connective tissue and contributes to development and resilience of ligaments. This link has been explored in multiple studies featuring less than 250 individuals per study. Out of six studies, one found a direct link between certain variations of this gene and increased risk of ligament injury. The other studies focused on variants that improved protection from ligament injury. Research groups at Stanford University and the University of Vermont are working to improve our understanding of this connection and increase our confidence in this marker. The Athletigen science department has given this gene marker a “C” rating due to the small study sizes and differences in the design of each study. Replicating this association in larger participant groups across multiple ethnicities will enhance the grade of this marker.
Those who carry the genotype of rs1800012 associated with an above-average risk of ligament injury may need to take extra steps to ensure their safety while training or working out. Stretching can help increase range of motion, blood flow and reduce risk of injury. Consultation with a coach or mobility professional is recommended.
Mobility WOD's Kelly Starrett offers a range of courses and services aimed at mobility optimization and injury prevention.
Three studies, ranging in total number of participants (100 to 600 sampled individuals), have observed a significant association between the variants of the CILP gene and disc degeneration in Asian and European groups. Despite these studies reporting the same findings, Athletigen’s science department has decided to give this gene a “C” rating until a larger sampled study can be completed to reduce any potential bias caused by small-scale study design. The studies observed that individuals with AA and AG genotypes for the rs2073711 marker in the CILP gene may have a lower vulnerability to disc degeneration injury, while others with the GG genotype were associated with an average vulnerability to the same injury.
A common cause of lower back pain is disc degeneration. This pain can curb anyone’s ability to workout. If your genotype doesn’t provide you with a lower vulnerability, you may want to emphasize proper form and technique when performing exercises that add extra strain on your lower back. Additionally, maintaining good posture throughout the day is key to reducing pressure on your discs. Activities like yoga can help build strength and flexibility while also stretching muscles and relieving tension in the body. Yoga can help athletes develop muscle and joint awareness to improve their posture and prevent disc degeneration. Iyengar yoga is a form of yoga that emphasizes detail, precision and alignment during practice, this promotes spine health and can reduce lower back and neck pain.
In our pursuit to deliver Iris users with relevant and well-researched human performance insights in a context of applied genetics, we are in a perpetual state to research. Our ongoing search for the most relevant scientific information means our users are updated on - and benefit from - our discoveries in real-time with 11 new markers related to injuries being added to our reports in the next month.
It’s important to note that an athlete’s genetic information on its own isn’t enough to influence coaching decisions. It’s a piece of the puzzle. An athlete’s unique genetic information mixed with factors relating to their environment (training load, sleep, nutrition, etc.) present a more complete picture of how an athlete can reach their peak performance level. Genetic information provides an added layer of context for how an athlete’s body responds to its environment. Genetic insights are not a replacement for coaches or health care professionals, the insights are simply more information that can be used by coaches and athletes to provide a fuller picture of how to optimize an athlete’s environment to complement their body.