Profiling the natural athlete
Sports science could be revolutionised by Qatar University’s groundbreaking research into genetically influenced metabolites in elite competitors
Conventional wisdom tells us that to make it as an elite athlete, you must possess dedication, hard work and a bit of good fortune. Physical factors might place certain individuals at an advantage – few basketball players are under 6ft in height, for example – but ultimately, we tend to think of sport as being meritocratic, with sacrifice and application making the difference between winning and losing.
Assistant professor at Qatar University’s Biomedical Research Center, Mohamed Elrayess, has uncovered evidence that suggests otherwise. Having conducted the largest-ever genome-wide association study (GWAS) into genetically influenced metabolites in elite athletes, Dr Elrayess’s research contests the notion that there is a blank slate for anyone with ambitions of competing at the highest level. Dedication, practice and other environmental factors will always be important, he notes, but for the first time, it has been proven that there is a genetic predisposition for elite athlete performance, something that was previously considered a myth.
“The superior performance of elite athletes has long been considered an outcome of interaction between gene and environment. Plenty of evidence supports the role of environment, but genetic evidence remained elusive because of complex phenotype and the small effect size of genetic factors,” says Dr Elrayess. “What we did was select an intermediate phenotype [the metabolites within the elite athletes], then carried out the largest genome-wide association study to date on elite athletes.
“Now, there have already been studies where genetically influenced metabolites were discovered in non-athletes, but when we carried these studies out in elite athletes – because they are super, not just normal humans – we identified others. Among these, the most interesting was a genetic variant in a gene that codes for the enzyme fundamental to steroid function.
“We might produce the same amount of steroids, but I might have a better utility of the steroids because I have this genetic variant. We found that high-endurance athletes have the genetic variant that gives them this extra kick. I think this is a very important finding because for the first time there is concrete evidence that there is a genetic predisposition to an enzyme that is giving an advantage to elite, high-endurance athletes and, especially, in relation to steroids. I don’t need to explain how important steroids are for muscle mass and metabolism.”
The implications for the world of sport and sports science are huge. It offers another biomarker for anti-doping agencies to refine their non-conventional screening methods. Dr Elrayess, who worked in the Anti-Doping Lab Qatar for eight years, believes that the interaction between genetics and metabonomics will be hugely important for anti-doping.
For sports federations, whose goal is to select and train the next generation of elite athletes, genetic screening for metabolites might identify new talent, and then tailor training regimes to fit that individual’s genetic profile. Sports science already operates on this principle, but with another biomarker there is more information better to identify athletic potential. Those with the relevant genetically influenced metabolites will metabolise the steroids their bodies produce, marking them as naturally gifted in fields requiring endurance.
“These athletes will probably benefit more from a certain type of exercise that will give them the extra fraction of a second that they require when they run the marathon,” he says. “Our ongoing work has also indicated that one of the genes involved in endurance is related to the size of the heart muscle, and so you can imagine if you are genetically predisposed to have a larger heart then you are going to benefit more from the exercise, giving you a greater VO2 max [oxygen uptake]. You will run for longer without losing your power.”
One of the biggest problems when conducting such research is finding a suitably large sample size. It is a problem common to all GWAS, where the step size is typically small, meaning that large sample sizes in the tens or hundreds of thousands are required if scientists are to find the genetic variances to explain the phenotype and enable them to make sense of the data. Even when conducting a GWAS on diabetes or cardiovascular disease, sample size is an issue because of the multifactorial nature of their phenotypes.
To study a sufficient number of elite athletes, who are few in number, an international outlook is required. Qatar University’s Biomedical Research Center worked in close collaboration with anti-doping laboratories in Rome and in Qatar to collect the necessary data. It then took a novel approach to interrogate the data. “They collect hundreds and thousands of samples every year for doping tests, but no one has gone the extra mile and performed the genetic studies on them, or metabolomic studies on them. We were the first people to think of this,” says Dr Elrayess.
This research was sponsored by the Qatar National Research Fund. Other institutions that collaborated with Dr Elrayess on his research were Weill Cornell Medicine – Qatar, Hamad Bin Khalifa University and University College London. Dr Elrayess notes that Qatar is making a huge investment into scientific infrastructure and believes that it is creating an environment of scientific excellence that is focused on attracting international talent to help build the local capacity.
“Because I spent most of my working life in the UK, when I came to Qatar I was actually very surprised by the interest and the infrastructure the country is building. The government is pumping resources into it and getting some of the best minds in the world to build this very healthy scientific environment. You cannot do this without international collaboration. Therefore, research institutions are keen to extend collaborative opportunity as much as possible to people outside of the country.”
If Dr Elrayess is correct: his research into genetically modified metabolites will have considerable commercial potential, ushering in a new era of products and services that enable genetically influenced metabolite screening and advanced anti-doping tools. In sport, leveraging any kind of advantage, genetically endowed or otherwise, is the name of the game. So perhaps it is on the track and field where Dr Elrayess’s work will flourish. “You are talking about fractions of seconds between gold medallists and silver medallists,” he says. “It is a cruel world. This research could be the kind of thing that will make all the difference for elite athletes.”
For more information please visit www.qu.edu.qa