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Genetic Basis of Sports Athletes

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A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 March 2023) | Viewed by 12163

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Dr. Naoki Kikuchi

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Guest Editor

Faculty of Sport Science, Nippon Sport Science University, Tokyo 158-8508, Japan
Interests: sport genetics; strength and conditioning
Special Issues, Collections and Topics in MDPI journals

Prof. Dr. Ildus I. Ahmetov

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Guest Editor

1. Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool L3 5AF, UK
2. Department of Physical Education, Plekhanov Russian University of Economics, Moscow, Russia
Interests: sports genomics; psychogenetics; exercise physiology; nutrigenomics
Special Issues, Collections and Topics in MDPI journals

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Dear Colleagues,

Athletic performance phenotypes are complex and dependent upon numerous environmental and genetic factors, among which heritability estimates 66% of athletic performance. The relationship between certain genetic polymorphisms and athletic performance, muscle phenotypes, and response to physical training has recently been reported. To uncover multiple genetic effects, the application of high-throughput technologies, such as genome-wide association studies or next-generation whole genome and/or exome sequencing, will be necessary. Uncovering genetic contributions to physical performance and/or its related traits can help to determine the possibility of using genetic approaches to individualize the manipulation of training variables to enhance competitive abilities. These possibilities provide the rationale and motivation for genetic studies of physical performance and/or its related traits.

As the guest editors of this Special Issue on “Genetic Basis of Sports Athletes”, we kindly invite you to submit a manuscript to Genes, with the aim of enhancing knowledge regarding how genetics influence athletic status and sports performance and how we can apply genetic information in the context of sports. We are especially interested in original investigations that use cohorts of elite/professional athletes and include measurements of phenotypes directly associated with sports performance. We also welcome narrative and systematic reviews that help to translate the current knowledge of the influence of genetics on sports performance to athletes, coaches, and other supporting personnel, as they are key elements to effectively interpreting how research can be used in the field to aid in the preparation of elite athletes.

Dr. Naoki Kikuchi
Prof. Dr. Ildus I. Ahmetov
Guest Editors

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Keywords

genetics
single nucleotide polymorphism
genome-wide association analysis
athletic performance
elite athletes
strength athletes
power athletes
endurance athletes
women athletes

Published Papers (5 papers)

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15 pages, 1154 KiB

Open AccessArticle

Genetic Variations between Youth and Professional Development Phase English Academy Football Players

by Alexander B.T. McAuley, David C. Hughes, Loukia G. Tsaprouni, Ian Varley, Bruce Suraci, Joseph Baker, Adam J. Herbert and Adam L. Kelly

Genes 2022, 13(11), 2001; https://doi.org/10.3390/genes13112001 - 01 Nov 2022

Cited by 1 | Viewed by 1513

Abstract

The purpose of this study was to examine differences in the genotype frequency distribution of thirty-three single nucleotide variants (SNVs) between youth development phase (YDP) and professional development phase (PDP) academy football players. One hundred and sixty-six male football players from two Category 1 and Category 3 English academies were examined within their specific age phase: YDP (n = 92; aged 13.84 ± 1.63 years) and PDP (n = 74; aged 18.09 ± 1.51 years). Fisher’s exact tests were used to compare individual genotype frequencies, whereas unweighted and weighted total genotype scores (TGS; TWGS) were computed to assess differences in polygenic profiles. In isolation, the IL6 (rs1800795) G allele was overrepresented in PDP players (90.5%) compared to YDP players (77.2%; p = 0.023), whereby PDP players had nearly three times the odds of possessing a G allele (OR = 2.83, 95% CI: 1.13–7.09). The TGS (p = 0.001) and TWGS (p < 0.001) were significant, but poor, in distinguishing YDP and PDP players (AUC = 0.643–0.694), with PDP players exhibiting an overall more power-orientated polygenic profile. If validated in larger independent youth football cohorts, these findings may have important implications for future studies examining genetic associations in youth football. Full article

(This article belongs to the Special Issue Genetic Basis of Sports Athletes)

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15 pages, 1797 KiB

Open AccessArticle

Association of Gene Variants for Mechanical and Metabolic Muscle Quality with Cardiorespiratory and Muscular Variables Related to Performance in Skiing Athletes

by Benedikt Gasser, Martin Flück, Walter O. Frey, Paola Valdivieso and Jörg Spörri

Genes 2022, 13(10), 1798; https://doi.org/10.3390/genes13101798 - 05 Oct 2022

Cited by 3 | Viewed by 1859

Abstract

Background: Skiing is a popular outdoor sport posing different requirements on musculoskeletal and cardiorespiratory function to excel in competition. The extent to which genotypic features contribute to the development of performance with years of ski-specific training remains to be elucidated. We therefore tested whether prominent polymorphisms in genes for angiotensin converting enzyme (ACE-I/D, rs1799752), tenascin-C (TNC, rs2104772), actinin-3 (ACTN3, rs1815739) and PTK2 (rs7460 and rs7843014) are associated with the differentiation of cellular hallmarks of muscle metabolism and contraction in high level skiers. Material & Methods: Forty-three skiers of a world-leading national ski team performed exhaustive cardiopulmonary exercise testing as well as isokinetic strength testing for single contractions, whereby 230 cardiopulmonary measurements were performed in the period from 2015–2018. A total of 168 and 62 data measurements were from the Alpine and Nordic skiing squads, respectively. Ninety-five and one hundred thirty-five measurements, respectively, were from male and female athletes. The average (±SD) age was 21.5 ± 3.0 years, height 174.0 ± 8.7 cm, and weight 71.0 ± 10.9 kg for the analysed skiers. Furthermore, all skiers were analysed concerning their genotype ACE-I/D, Tenascin C, ACTN3, PTK2. Results: The genotype distribution deviated from Hardy–Weinberg equilibrium for the ACTN3 genotype, where rs1815739-TT genotypes (corresponding to the nonsense mutation) were overrepresented in world-class skiers, indicating a slow muscle fibre phenotype. Furthermore, the heterozygous rs2104772-AT genotypes of TNC also demonstrated the best scaled peak power output values during ramp exercise to exhaustion. The highest values under maximum performance for heart rate were associated with the rs1799752-II and rs1815739-CC genotypes. The lowest values for peak power of single contractions were achieved for rs1815739-CC, rs1799752-II and rs7843014-CT genotypes. The skiing discipline demonstrated a main influence on cardiorespiratory parameters but did not further interact with genotype-associated variability in performance. Discussion: Classically, it is pointed out that muscles of, for example, alpine skiers do not possess a distinct fibre type composition, but that skiers tend to have a preponderance of slow-twitch fibres. Consequently, our findings of an overrepresentation of ACTN3-TT genotypes in a highly selective sample of elite world class skiers support the potential superiority of a slow fibre type distribution. Conclusions: We suggest that one competitive advantage that results from a slow, typically fatigue-resistant fibre type distribution might be that performance during intense training days is better preserved, whereby simply a higher technical training volume can be performed, yielding to a competitive advantage. Full article

(This article belongs to the Special Issue Genetic Basis of Sports Athletes)

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13 pages, 1194 KiB

Open AccessArticle

Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

by Mark R. Antrobus, Jon Brazier, Peter C. Callus, Adam J. Herbert, Georgina K. Stebbings, Praval Khanal, Stephen H. Day, Liam P. Kilduff, Mark A. Bennett, Robert M. Erskine, Stuart M. Raleigh, Malcolm Collins, Yannis P. Pitsiladis, Shane M. Heffernan and Alun G. Williams

Genes 2022, 13(5), 820; https://doi.org/10.3390/genes13050820 - 04 May 2022

Cited by 3 | Viewed by 2707

Abstract

Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sustaining a concussion is high. Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected concussion-associated polygenic profiles of elite rugby athletes differed from non-athletes and between rugby union forwards and backs. We hypothesised that a total genotype score (TGS) using eight concussion-associated polymorphisms would be higher in elite rugby athletes than non-athletes, indicating selection for protection against incurring or suffering prolonged effects of, concussion in the relatively high-risk environment of competitive rugby. In addition, multifactor dimensionality reduction was used to identify genetic interactions. Contrary to our hypothesis, TGS did not differ between elite rugby athletes and non-athletes (p ≥ 0.065), nor between rugby union forwards and backs (p = 0.668). Accordingly, the TGS could not discriminate between elite rugby athletes and non-athletes (AUC ~0.5), suggesting that, for the eight polymorphisms investigated, elite rugby athletes do not have a more ‘preferable’ concussion-associated polygenic profile than non-athletes. However, the COMT (rs4680) and MAPT (rs10445337) GC allele combination was more common in rugby athletes (31.7%; p < 0.001) and rugby union athletes (31.8%; p < 0.001) than non-athletes (24.5%). Our results thus suggest a genetic interaction between COMT (rs4680) and MAPT (rs10445337) assists rugby athletes in achieving elite status. These findings need exploration vis-à-vis sport-related concussion injury data and could have implications for the management of inter-individual differences in concussion risk. Full article

(This article belongs to the Special Issue Genetic Basis of Sports Athletes)

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11 pages, 466 KiB

Open AccessArticle

Association of Genetically Predicted BCAA Levels with Muscle Fiber Size in Athletes Consuming Protein

by Elliott C. R. Hall, Ekaterina A. Semenova, Elvira A. Bondareva, Liliya B. Andryushchenko, Andrey K. Larin, Pawel Cięszczyk, Edward V. Generozov and Ildus I. Ahmetov

Genes 2022, 13(3), 397; https://doi.org/10.3390/genes13030397 - 23 Feb 2022

Cited by 6 | Viewed by 2815

Abstract

Branched-chain amino acid (BCAA) levels are associated with skeletal muscle cross-sectional area (CSA). Serum BCAA levels are enhanced by whey protein supplementation (WPS), and evidence in clinical populations suggests an association of single nucleotide polymorphisms (SNPs) with BCAA metabolite levels. It is not known whether the same SNPs are associated with the ability to catabolise BCAAs from exogenous sources, such as WPS. The present study investigated whether possessing a higher number of alleles associated with increased BCAA metabolites correlates with muscle fiber CSA of m. vastus lateralis in physically active participants, and whether any relationship is enhanced by WPS. Endurance-trained participants (n = 75) were grouped by self-reported habitual WPS consumption and genotyped for five SNPs (PPM1K rs1440580, APOA5 rs2072560, CBLN1 rs1420601, DDX19B rs12325419, and TRMT61A rs58101275). Body mass, BMI, and fat percentage were significantly lower and muscle mass higher in the WPS group compared to Non-WPS. The number of BCAA-increasing alleles was correlated with fiber CSA in the WPS group (r = 0.75, p < 0.0001) and was stronger for fast-twitch fibers (p = 0.001) than slow-twitch fibers (p = 0.048). Similar results remained when corrected for multiple covariates (age, physical activity, and meat and dairy intake). No correlation was found in the Non-WPS group. This study presents novel evidence of a positive relationship between BCAA-increasing alleles and muscle fiber CSA in athletes habitually consuming WPS. We suggest that a high number of BCAA-increasing alleles improves the efficiency of WPS by stimulation of muscle protein synthesis, and contributes to greater fiber CSA. Full article

(This article belongs to the Special Issue Genetic Basis of Sports Athletes)

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8 pages, 503 KiB

Open AccessBrief Report

Collagen Gene Variants and Anterior Cruciate Ligament Rupture in Italian Athletes: A Preliminary Report

by Myosotis Massidda, Laura Flore, Marco Scorcu, Giovanni Monteleone, Alessandra Tiloca, Massimiliano Salvi, Filippo Tocco and Carla M. Calò

Genes 2023, 14(7), 1418; https://doi.org/10.3390/genes14071418 - 09 Jul 2023

Viewed by 1020

Abstract

Several studies have investigated the role of genetics in anterior cruciate ligament (ACL) rupture, often returning conflicting results. The present pilot study aimed to analyze the association between six Single Nucleotide Polymorphisms (SNPs) (rs1800012; rs12722; rs13946; rs240736; rs970547; and rs4870723, located on the COL1A1, COL5A1, COL12A1, and COL14A1 genes), and ACL rupture, among Italian athletes. A hypothesis-driven association study was conducted. In total, 181 male and female athletes (n = 86 injured; n = 96 non-injured) were genotyped for the prioritized variants. All polymorphisms were genotyped using PCR RFLP, with the only exception being the rs1800012 on the COL1A1 gene, which was detected using MTPA PCR. The allele frequency distribution fell within the worldwide range. Despite the evident population variability, no selective pressure signals were recorded using PBS analysis. No significant difference was detected between the cases and controls for any of the SNPs (rs1800012; rs13946; rs240736; rs970547, and rs4870723) included in the analyses (p > 0.008, Bonferroni-adjusted for multiple comparisons). Moreover, no significant differences were found when males and females were assessed separately. Further investigations based on a larger sample size are needed, in order to draw solid conclusions for the influence between collagen genes and ACL rupture. Full article

(This article belongs to the Special Issue Genetic Basis of Sports Athletes)

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