Perspectives in Sports Genomics

Human athletic performance is a complex phenotype influenced by environmental and genetic factors, with most exercise-related traits being polygenic in nature. The aim of this article is to outline some of the challenge faced by sports genetics as this relatively new field moves forward. This review summarizes recent advances in sports science and discusses the impact of the genome, epigenome and other omics (such as proteomics and metabolomics) on athletic performance. The article also highlights the current status of gene doping and examines the possibility of applying genetic knowledge to predict athletes’ injury risk and to prevent the rare but alarming occurrence of sudden deaths during sporting events. Future research in large cohorts of athletes has the potential to detect new genetic variants and to confirm the previously identified DNA variants believed to explain the natural predisposition of some individuals to certain athletic abilities and health benefits. It is hoped that this article will be useful to sports scientists who seek a greater understanding of how genetics influences exercise science and how genomic and other multi-omics approaches might support performance analysis, coaching, personalizing nutrition, rehabilitation and sports medicine, as well as the potential to develop new rationale for future scientific investigation

Определение оптимальной силы контактного взаимодействия инструмента и детали при отделочно-упрочняющей обработке методом алмазного выглаживания

The main factors of the process of diamond smoothing are considered in the work: the force of the contact interaction of the tool and the part in the deformation zone and the friction on the contact surface of the part and the smoother. The technique of analytical determination of the optimal smoothing force for the finishing-hardening treatment mode is presented. The calculated values were obtained for some characteristic grades of materials of small and medium hardness (≤ 210 HB, indenter radius 3.4 mm) and a number of hardened steels of high hardness (indenter radius 2.0 mm). The force values are also determined using expressions for the deformation component of the friction coefficient. A comparative analysis of the results indicates that the calculation options are adequate for practical purposes. On specific examples of processed materials, graphical dependencies are shown, which reflect the relationship between the coefficient of friction, including its deformation component, and the smoothing force. With an increase in the leveling force, the friction coefficient increases, this is explained by an increase in the depth of penetration of the diamond tip and, consequently, an increase in the deformation component. The depth of penetration of the indenter into the surface to be treated, and therefore the coefficient of friction during ironing, depends on the hardness of the material being processed. With increasing hardness, the penetration depth decreases, which leads to a decrease in the deformation component and in general the coefficient of friction. The friction coefficient is also affected by the radius of the working part of the tool, since the indenter penetration depth also depends on its value. The research results can be used in the development of technology for finishing and hardening diamond smoothing, the development of the process and its introduction into production.Рассмотрены основные факторы процесса алмазного выглаживания: сила контактного взаимодействия инструмента и детали в зоне деформации и трение на контактной поверхности детали и выглаживателя. Представлена методика аналитического определения оптимальной силы выглаживания для отделочно-упрочняющего режима обработки. Расчетным путем получены значения силы для некоторых характерных марок материалов небольшой и средней твердости (≤210 HB, радиус индентора – 3,4 мм) и ряда закаленных сталей высокой твердости (радиус индентора – 2,0 мм). Также определены значения сил с использованием выражений для деформационной составляющей коэффициента трения. Сравнительный анализ результатов свидетельствует о достаточной для практических целей адекватности вариантов расчета. На конкретных примерах обрабатываемых материалов показаны графические зависимости, отражающие связь коэффициента трения, в том числе его деформационной составляющей, и силы выглаживания. С увеличением силы выглаживания увеличивается коэффициент трения, что объясняется увеличением глубины внедрения алмазного наконечника и, следовательно, ростом деформационной составляющей. Глубина внедрения индентора в обрабатываемую поверхность, а следовательно, коэффициент трения при выглаживании зависит от твердости обрабатываемого материала. С повышением твердости глубина внедрения уменьшается, что приводит к снижению деформационной составляющей и в целом коэффициента трения. На коэффициент трения также влияет радиус рабочей части инструмента, так как от его величины тоже зависит глубина внедрения индентора. Результаты исследований могут быть использованы при разработке технологии отделочно-упрочняющего алмазного выглаживания, освоении процесса и внедрении его в производство

Bibliometric and scientometric analysis on biomarkers and molecular mechanisms for physical frailty and sarcopenia

Introduction: The influence of physical frailty and sarcopenia (PFS) on the well-being of older people and continuous pressure on the healthcare systems has prompted a research on the pathophysiology and molecular mechanisms of these conditions. Nonetheless some biomarkers have been suggested as potential markers for PFS none of them have been shown to highlight the complex nature of PFS, which reveals that there is a need for an understanding of the possible biomarker candidates. The aim of this study was to identify the current research hotspots, status, and trends in the field of biomarkers and molecular mechanisms for PFS. Methods: The bibliometric and scientometric analyses were performed using VOSviewer (version 1.6.18) and open source software platform Cytoscape v.3.9 (for visualizing and constructing a network of keywords). Data of publications (from 1997 to 2023) related to biomarkers and molecular mechanisms of PFS were obtained (in May 2023) from the database of Science Citation Index Expanded of Web of Science, Scopus, and PubMed. The keywords obtained from the Scopus database were used to perform a meaningful keyword analysis. A network of keyword relationships was build using Cytoscape. Results: In this study, we present biomarker keywords for PFS in relation to other keywords potentially designating processes and mechanisms and reveal the biomarker identities and current contexts in which these biomarker identities are discussed. Conclusions: Over recent years, scientific interest in the field of PFS has increased and focused on the inflammatory process and probably will be concentrated on myokines (such as cytokines and small proteins) that are synthetized and released by skeletal muscles in response to physical activity. Moreover, proteomic and genetic markers are deeply involved in PFS

The -9/+9 polymorphism of the bradykinin receptor beta 2 gene and athlete status: A study involving two European cohorts.

Background: Previous studies concerning the relevance of the BDKRB2 gene polymorphisms revealed that the absence (–9 allele) of a 9 base pair sequence in exon 1 of the BDKRB2 gene is correlated with higher skeletal muscle metabolic efficiency, glucose uptake during exercise, as well as endurance athletic performance. Aim: The aim of the study was to investigate the association between the BDKRB2 -9/+9 polymorphism and elite athletic status in two cohorts of east-European athletes. Therefore, we examined the genotype distribution of the BDKRB2 9/+9 polymorphic site in a group of Polish athletes and confirmed the results obtained in a replication study of Russian athletes. Methods: Three hundred and two Polish athletes and 684 unrelated sedentary controls as well as 822 Russian athletes and 507 unrelated sedentary volunteers were recruited for this study. All samples were genotyped for the -9/+9 polymorphism within exon 1 of the BDKRB2 gene using a polymerase chain reaction (PCR). Significance was assessed by χ2 analysis with Bonferroni\u27s correction for multiple testing. Results: We have not found any statistical difference in the -9/+9 genotype and allele frequencies in two groups of athletes divided into four subgroups, i.e. endurance, sprint-endurance, sprint-strength and strength athletes, when compared with controls. There weren\u27t any significant differences found in allele frequencies (P = 0.477) and genotype distribution (P = 0.278) in the initial and replication studies. Conclusion: No association was found between the BDKRB2 -9/+9 polymorphism and elite athletic status in two cohorts of east- European athlete

Association of gene polymorphisms with body weight changes in prediabetic patients

Recent research has demonstrated that Type 2 Diabetes (T2D) risk is influenced by a number of common polymorphisms, including MC4R rs17782313, PPARG rs1801282, and TCF7L2 rs7903146. Knowledge of the association between these single nucleotide polymorphisms (SNPs) and body weight changes in different forms of prediabetes treatment is still limited. The aim of this study was to investigate the association of polymorphisms within the MC4R, PPARG, and TCF7L2 genes on the risk of carbohydrate metabolism disorders and body composition changes in overweight or obese patients with early carbohydrate metabolism disorders. From 327 patients, a subgroup of 81 prediabetic female patients (48.7 ± 14.8 years) of Eastern European descent participated in a 3-month study comprised of diet therapy or diet therapy accompanied with metformin treatment. Bioelectrical impedance analysis and genotyping of MC4R rs17782313, PPARG rs1801282, and TCF7L2 rs7903146 polymorphisms were performed. The MC4R CC and TCF7L2 TT genotypes were associated with increased risk of T2D (OR = 1.46, p = 0.05 and OR = 2.47, p = 0.006, respectively). PPARG CC homozygotes experienced increased weight loss; however, no additional improvements were experienced with the addition of metformin. MC4R TT homozygotes who took metformin alongside dietary intervention experienced increased weight loss and reductions in fat mass (p < 0.05). We have shown that the obesity-protective alleles (MC4R T and PPARG C) were positively associated with weight loss efficiency. Furthermore, we confirmed the previous association of the MC4R C and TCF7L2 T alleles with T2D risk. [Abstract copyright: © 2022. The Author(s).

The relationship of testosterone levels with sprint performance in young professional track and field athletes

Evidence suggests that higher testosterone levels may provide an athletic advantage. Therefore, it is of practical interest to examine the association between testosterone levels and power- and strength-related traits in young professional track and field athletes, and to consider the factors that determine testosterone levels. The study involved 68 young professional athletes (45 females, 17.3 ± 2.6 years; 23 males, 18.2 ± 1.9 years). Testosterone levels were assessed via liquid chromatography-mass spectrometry. All subjects performed two 20 m and two 30 m sprint trials, and countermovement jump without arm-swing. A bioimpedance analysis of body composition was carried out and biological maturity was examined using the Khamis-Roche method. The average testosterone levels were 26.4 ± 9.6 nmol/l and 1.5 ± 0.7 nmol/l in males and females, respectively. In female athletes, testosterone levels did not correlate with any of traits. Males with the highest testosterone levels were significantly faster in the 20 m (p = 0.033) and 30 m (p = 0.014) sprint trials compared to males with lower testosterone levels. Testosterone levels in males were positively associated with fat mass (p = 0.027), and degree of biological maturation (p = 0.003). In conclusion, we found a positive relationship between testosterone levels and sprint performance in young male athletes

CKM Gene rs8111989 Polymorphism and Power Athlete Status.

Multiple genetic variants are known to influence athletic performance. These include polymorphisms of the muscle-specific creatine kinase (CKM) gene, which have been associated with endurance and/or power phenotypes. However, independent replication is required to support those findings. The aim of the present study was to determine whether the CKM (rs8111989, c.*800A>G) polymorphism is associated with power athlete status in professional Russian and Lithuanian competitors. Genomic DNA was collected from 693 national and international standard athletes from Russia (n = 458) and Lithuania (n = 235), and 500 healthy non-athlete subjects from Russia (n = 291) and Lithuania (n = 209). Genotyping for the CKM rs8111989 (A/G) polymorphism was performed using PCR or micro-array analysis. Genotype and allele frequencies were compared between all athletes and non-athletes, and between non-athletes and athletes, segregated according to population and sporting discipline (from anaerobic-type events). No statistically significant differences in genotype or allele frequencies were observed between non-athletes and power athletes (strength-, sprint- and speed/strength-oriented) athletes. The present study reports the non-association of the CKM rs8111989 with elite status in athletes from sports in which anaerobic energy pathways determine success

Genetic profile of sports climbing athletes from three different ethnicities

This study aimed to investigate the ACTN3 R577X, ACE I/D, CKM rs8111989, and TRHR rs7832552 genotypes in climbers and controls in three ethnicities. The study consisted of 258 climbers (Japanese, n = 100; Polish, n = 128; Russian, n = 30) and 1151 controls (Japanese: n = 332, Polish: n = 635, Russian: n = 184). Genotyping results were analyzed using the TaqMan approach in Japanese and Polish subjects and HumanOmni1-Quad Bead Chips in Russian subjects. There were no significant differences in ACTN3 R577X and ACE I/D polymorphism distribution between climbers and controls in any ethnic cohort or model. The frequencies of the C allele in the CKM polymorphism and the T allele in the TRHR polymorphism were higher in climbers than in controls only in the Russian cohort (p = 0.045 and p = 0.039, respectively). The results of the meta-analysis on three cohorts showed that the frequency of XX + RX genotypes in the ACTN3 R577X polymorphism was significantly higher in climbers than that in the controls (p = 0.01). The X allele of the ACTN3 R577X polymorphism was associated with sport climbing status, as assessed using a meta-analysis of climbers across three different ethnicities

Is COL1A1 Gene rs1107946 Polymorphism Associated with Sport Climbing Status and Flexibility?

The purpose of this study was to compare the frequency of COL1A1 rs1107946 polymorphism between sport climbers and controls from three ethnic groups (Japanese, Polish, and Russian) and investigate the effect of the COL1A1 rs1107946 polymorphism on the age-related decrease in flexibility in the general population. Study I consisted of 1929 healthy people (controls) and 218 climbers, including Japanese, Polish, and Russian participants. The results of the meta-analysis showed that the frequency of the AC genotype was higher in climbers than in the controls (p = 0.03). Study II involved 1093 healthy Japanese individuals (435 men and 658 women). Flexibility was assessed using a sit-and-reach test. There was a tendency towards association between sit-and-reach and the COL1A1 rs1107946 polymorphism (genotype: p = 0.034; dominant: p = 0.435; recessive: p = 0.035; over-dominant: p = 0.026). In addition, there was a higher negative correlation between sit-and-reach and age in the AA + CC genotype than in the AC genotype (AA + CC: r = -0.216, p &lt; 0.001; AC: r = -0.089, p = 0.04; interaction p = 0.037). However, none of these results survived correction for multiple testing. Further studies are warranted to investigate the association between the COL1A1 gene variation and exercise-related phenotypes