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.
The aim is to reveal the features of microcirculation of athletes with various sport qualifications practicing cyclic endurance sports, as well as its dependence on the VEGF (vascular endothelial growth factor) level and hematological parameters. Research materials and methods. The study involved athletes aged 18-22 practicing track-and-field (middle and long distances, from 1st rank to Master of Sports of the Russian Federation), swimming (middle distances, from 1st rank to Master of Sports of the Russian Federation), skiing (from 1st rank to Master of Sports of the Russian Federation), and non-athletes. We utilized a laser detection to record parameters of peripheral blood flow and tissue fluorescence amplitudes. Research results and discussion. We recorded significant difference in microcirculation parameters for skiers and field athletes. Skiers demonstrated a lower value of average perfusion, while field athletes showed its double predominance in contrast with skiers. At the same time, cooling of the studied area caused no difference between the studied groups. Heating of the studied area resulted in the statistically significant changes in microcirculation between groups of skiers in contrast with field athletes and swimmers, as well as swimmers, in contrast with field athletes and non-athletes. At the same time, the VEGF level had correlations with the microcirculation of field athletes, and it was recorded with the NADN parameter under the cooling (r = 0.89; p = 0.019) and heating (r = 0, 94; p = 0.005) conditions. Conclusion. We revealed the signs of long-term adaptation of peripheral blood flow of athletes conditioned by the type and conditions of sport activities. It results in difference in perfusion of the studied skin area.
The aim of the research is an assessment of statokinetic stability of young gymnasts in the annual training cycle by means of conventional stabilographic tests supplemented by vestibular response stimulation.
Materials and methods. The research brought together young athletes aged 8-9 years engaged in gymnastics during the early stages of involvement. We used the «Stabilan 01-2» stabilographic hardware-software complex (ZAO OKB «Rhythm», Russia) for the assessment of a statokinetic function.
Results. We have provided the analysis of stabilographic indicators of statokinetic stability of young gymnasts in the annual training cycle, as well as children who do not participate in sport. We have revealed statistically significant differences in statokinetic stability between the representatives of the examined contingent and statistically significant positive dynamics in the annual cycle in young athletes. We have demonstrated that application of tests stimulating vestibular response along with conventional approaches for assessing statokinetic resistance results in getting better resistance indicators of gymnasts compared to non-athletes.
Conclusion. The research revealed that younger athletes have a higher level of maintaining body balance, especially in conditions of vestibular response stimulation compared to non-athletes. Consequently, it is necessary to complement conventional stabilographic tests with disturbing factors, for example vestibular response stimulation or local fatigue of the muscles of lower extremities.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.