Whole genome sequencing of elite athletes

Abstract

Whole genome sequencing (WGS) has great potential to explore all possible DNA variants associated with physical performance, psychological traits and health conditions of athletes. Here we present, for the first time, annotation of genomic variants of elite athletes, based on the WGS of 20 Tatar male wrestlers. The maximum number of high-quality variants per sample was over 3.8 M for single nucleotide polymorphisms (SNPs) and about 0.64 M for indels. The maximum number of nonsense mutations was 148 single nucleotide variants (SNVs) per individual. Athletes’ genomes on average contained 18.9 nonsense SNPs in a homozygous state per sample, while non-athletes’ exomes (Tatar controls, n = 19) contained 18 nonsense SNPs. Finally, we applied genomic data for the association analysis and used reaction time (RT) as an example. Out of 1884 known genome-wide significant SNPs related to RT, we identified four SNPs ( KIF27 rs10125715, APC rs518013, TMEM229A rs7783359, LRRN3 rs80054135) associated with RT in wrestlers. The cumulative number of favourable alleles ( KIF27 A, APC A, TMEM229A T, LRRN3 T) was significantly correlated with RT both in wrestlers ( P = 0.0003) and an independent cohort ( n = 43) of physically active subjects ( P = 0.029). Furthermore, we found that the frequencies of the APC A (53.3 vs 44.0%, P = 0.033) and LRRN3 T (7.5 vs 2.8%, P = 0.009) alleles were significantly higher in elite athletes (n = 107) involved in sports with RT as an essential component of performance (combat sports, table tennis and volleyball) compared to less successful (n = 176) athletes. The LRRN3 T allele was also over-represented in elite athletes (7.5%) in comparison with 189 controls (2.9%, P = 0.009). In conclusion, we present the first WGS study of athletes showing that WGS can be applied in sport and exercise science.

ACE and ACTN3 Gene Polymorphisms and Genetic Traits of Rowing Athletes in the Northern Han Chinese Population

“…Studies have suggested that genes are partially responsible for determining the anthropometric, physical, and physiological traits needed to achieve athletic performance ( Pickering, 2019 ). Single-nucleotide polymorphisms (SNPs) are genetic sequence variations related to the expression variation of key genes regulating the physiological process of exercise ( Boulygina, 2020 ). With the continuous development of genetic technology, it has become easier to further explore the genetic basis of excellent sports performance and find that SNPs and other genetic variations may directly or indirectly influence the athletic performance of aerobic exercise ability and other physiological characteristics, such as muscle strength and speed.…”

Evaluation of the Association of COMT Rs4680 Polymorphism with Swimmers’ Competitive Performance

“…Swimmers' competitive performance is a result of complicated interactions between physiological, biochemical, biomechanical, physical and psychological factors, all of which are strongly affected by water [16]. Although swimming research has underlined energetics and biomechanical assessment to understand the specific needs of this discipline, recently, special interest has been given to sports genomics focusing on the organization and functioning of the elite athletes' genome [3,16]. Despite a rather high heritability of athlete status [2], the search for genetic markers affecting elite sport predispositions remains a challenging task [3,17].…”

“…Although swimming research has underlined energetics and biomechanical assessment to understand the specific needs of this discipline, recently, special interest has been given to sports genomics focusing on the organization and functioning of the elite athletes' genome [3,16]. Despite a rather high heritability of athlete status [2], the search for genetic markers affecting elite sport predispositions remains a challenging task [3,17]. In the last years, great attention has been paid to the role of genetic factors influencing cognitive abilities such as motivation, stress tolerance and self-control, which may underlie differences in achieving remarkable results in sports competition.…”

“…The reported heritability of athlete status was estimated at around 66% [2]. The group of genetic factors that are likely to play an important role in physical performance includes numerous gene variants that influence power, strength, endurance, flexibility, muscle tissue properties, coordination, body composition and other traits [1,[3][4][5]. However, a commonly neglected aspect in studies related to development of athletic ability is the association between genetic polymorphisms and cognitive abilities such as motivation, stress tolerance and self-control [6].…”

Association of muscle fiber composition with health and exercise-related traits in athletes and untrained subjects

“…Visual reaction time was evaluated using the previously described Traffic light test [ 29 ]. Briefly, subjects sat at a table with the palm of the dominant hand supported and their index finger on a computer mouse.…”