Genes and elite athletes: a roadmap for future research

Abstract

There is compelling evidence that genetic factors influence several phenotype traits related to physical performance and training response as well as to elite athletic status. Previous case-control studies showed that ∼20 genetic variants seem to be associated with elite endurance athletic status. The present review aims to introduce novel methodological approaches in the field of sports genetics research, which can be applied in the near future to analyse the genotype profile associated with elite athletic status. These include genotype-phenotype association studies using gene expression analysis, analysis of post-transcriptional factors, particularly microRNAs, genome-wide scan linkage or genome-wide association studies, and novel algorithm approaches, such as 'genotype scores' . Several gaps in the current body of knowledge have been indentified including, among others: small sample size of most athletic cohorts, lack of corroboration with replication cohorts of different ethnic backgrounds (particularly, made up of non-Caucasian athletes), the need of research accounting for the potential role of epigenetics in elite athletic performance, and also the need for future models that take into account the association between athletic status and complex gene-gene and gene-environment interactions. Some recommendations are provided to minimize research limitations in the field of sport genetics.

ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

“…26 These observations provide plausible explanation for the overall reduced sprint capacity in humans with the 577XX genotype, and possibly increased in sprint capacity in humans with the 577RR genotype. 1,27 We believe that the results of this carefully controlled study are valid, as we strictly followed the latest genotype: phenotype study recommendations 16 and all of the following criteria have been met: all studied participants presented the main study phenotype (i.e., being a professional team sports athletes). Although we studied three cohorts, participants within and between each cohort were both age and ethnically matched (all European Caucasians), genetic assessment was accurate and unbiased, with genotype distribution being in Hardy-Weinberg equilibrium (HWE) in both cases and controls.…”

“…1 The majority of studies, so far, have focused on genotyping predominantly power or endurance athletes, who represent the physiological end-points of the sporting continuum. However, the genetic contribution to success in sports that require a combination of anaerobic and aerobic qualities (e.g., team sports such as soccerand water-polo) has received limited attention.…”

The C Allele in NOS3 -786 T/C Polymorphism is Associated with Elite Soccer Player's Status

“…Genetic variants may explain some of the differences between athletes, in general, and non-athletes, and between athletes participating in different sport areas that involve different physiological demands [6]. Two recent studies showed a higher proportion of the R allele of the R577X polymorphism in the α-actinin-3 (ACTN3 ) gene, and of the DD genotype of the Insertion(I)/Deletion(D) polymorphism in the angiotensin-converting enzyme (ACE) gene, in world-class professional soccer players compared with non-athletic controls and elite endurance athletes [12,23].…”

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“…It is now a matter of considerable interest is the fact that the athletes that dominate certain sports, come from specific geographic areas (Eastern or Western regions of Africa, South Asia) for example, marathon runners from Ethiopia or Kenya, African-American sprinters from Jamaica or the United States, gymnasts and figure skaters from Japan, Korea or China [3,4,11]. Although these cases are more likely to be a reflection of the historical socioeconomic and cultural characteristics of each region, it is assumed that the specific place of residence insulation sports qualities based on the uneven distribution of genetic characteristics relevant to physical and metabolic properties of individuals residing in each region [44].…”

“…In this connection, Fogel [2] coined the term "technophysiological evolution" to describe anthropometric gains of athletes' body. However, the most noticeable parameters affect the quality of sport, relate to biology, including genetics [3][4][5]: the physiological processes (especially time-dependent processes such as growth and aging [6][7][8] and environment [9,10] which can be either natural (e.g. ambient temperature, gas content, barometric pressure, winds, etc.)…”