The Winter Olympics is in full swing in Beijing, China. What an excellent occasion to look at how genetics can influence athletic performance and what science can tell us about the relationship between genes and an individual’s athletic ability.

Many physical traits determine how a person can perform in athletic events, such as the strength and composition of their skeletal muscles, muscle mass, height, flexibility, how well they coordinate movement, and aerobic capacity. Several studies have demonstrated that many of these physical traits are influenced by genetics. For example, twin and family studies have shown that genetic factors explain more than 50 percent of athletic performance differences. In addition, several other genes with diverse functions have been shown to affect how an athlete performs. These genes are involved in several different processes in the body, including but not limited to the function of skeletal muscles, energy production, and cellular communication.

As a result, it has become evident that if we understand how genetics influences athletic performance, we need to examine the genome as a whole. Sports genomics is a relatively new scientific discipline that aims to do just that. By focusing on the organization and functioning of the genome of elite athletes, scientists hope to identify the genetic and epigenetic factors that play a role in the phenotypes related to athletic performance. To examine this, several studies have used an approach called genome-wide association studies (GWAS), which aims to explore the variation across the entire genome, looking for associations between variants and athletic traits in elite athletes. These studies have identified over 150 different genetic variations linked to athletic performance; however, it is difficult to understand the significance of these genetic variations.

Another approach to understanding how genetics impact athletic performance is whole-genome sequencing (WGS). WGS is a comprehensive method that enables us to map entire genomes. This has several advantages over more traditional methods because it is more likely to capture small and large variants that could be missed with more targeted approaches. In addition, WGS enables researchers to identify variants involved in specific processes, further investigating gene expression or regulation mechanisms. This method can also be much more efficient than more traditional methods, delivering large volumes of data in a short amount of time. As a result, WGS could be a powerful tool for delving deeper into genetic variability and could be incredibly beneficial for sports science.

To understand how WGS can be used to gain insight into how genetic variation can impact athletic performance, let’s examine a recent study by Boulygina et al. (2020). This exciting study was the first of its kind, demonstrating how WGS can be used to examine genetic variation in elite athletes. Boulygina et al. used a low-coverage whole-genome analysis to characterize the whole genome sequence of a group of wrestlers. This information was then used to determine if there is an association between DNA variants and reaction time. These researchers found that several alleles were associated with reaction time in elite athletes. They demonstrated a link between these alleles (APC rs518013 A and LRRN3 rs80054135 T) and the best reaction time in wrestlers and other physically active people. In addition, these alleles were shown to be over-represented in elite athletes that participated in sports where reaction time was an essential component of their performance. This information supported other studies and demonstrates how WGS is an effective tool for examining genetic variation in sports science.

However, genetics isn’t the only thing that can impact an athlete’s performance. Environmental factors such as levels of physical activity, nutrition, mental health, training, and support can all impact how well an athlete performs. In addition, the environment can affect how genes are expressed by causing epigenetic changes, so it is important to consider both when examining athlete performance.

So there we have it – a person’s genes can affect their ability to excel in sports. However, we still need to know so much more to determine exactly which genes are involved, how the athlete’s environment can influence these, and how different variants impact performance. WGS is emerging as a powerful tool that could help us delve deeper into understanding how genetics can affect an individual’s athletic ability and provide significant advances in sport and exercise science.