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Genetics, Sports and Training
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Genetics, Sports and Training

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

Deadline for manuscript submissions: closed (15 July 2023) | Viewed by 18468

Special Issue Editors

Prof. Dr. Agnieszka Maciejewska-Skrendo

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Guest Editor
Department of Molecular Biology, Faculty of Physical Culture Gdansk, University of Physical Education and Sport, Kazimierza Gorskiego 1, 80-336 Gdansk, Poland
Interests: molecular genetics; human genetics; sports genetics
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Paweł Ciȩszczyk

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Guest Editor
Department of Molecular Biology, Faculty of Physical Culture Gdansk, University of Physical Education and Sport, Kazimierza Gorskiego 1, 80-336 Gdansk, Poland
Interests: sport genetics; population genetics; conservation genetics; exercise physiology; physical activity; physical performance
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Alison V. September

E-Mail Website
Guest Editor
Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
Interests: genetics of sports related injuries such as achilles tendinopathy; anterior cruciate ligament rupture and concussion
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

Special Issue Information

Dear Colleagues,

Since scientific research has demonstrated that there is a direct link between the structure and functioning of the genome and the formation of sports-related human characteristics (both purely physical and mental), the field commonly referred to as "sports genetics" has rapidly developed in recent years. Initially, the focus was on analysing the relationship between the frequency of specific phenotypic traits and the structural diversity of the genome, understood primarily as the occurrence of different sequence variants, both those involving single-nucleotide substitutions and larger changes related to the insertion/deletion of sequence fragments or to the number of copies of a given fragment of genetic material. As research techniques have improved, the methods for scanning and comparing the diversity of whole genomes have become simpler and more accessible. At the same time, significant epigenetic changes have also been detected, as well as functional differentiation in the use of individual fragments of the genome, manifested in various expression-related patterns of physical activity or regular sports training, for instance.

The field of sports genetics from this particular perspective is developing in a dynamic way. Thousands of studies in this field around the world are yielding a whole spectrum of exciting results, which we would like to present in this Special Issue dedicated to the complex relationship between genetics, sport and training.

As the guest editors of this Special Issue, we kindly invite you to submit a manuscript to Genes, using a range of study methods (e.g., case–control, genotype–phenotype, cross-sectional, response to training etc.), different omics approaches (genomics, epigenomics, transcriptomics, proteomics, and metabolomics), and cohorts (untrained subjects, amateur, and elite athletes). We also welcome systematic reviews and meta-analyses.  

Prof. Dr. Agnieszka Maciejewska-Skrendo
Prof. Dr. Paweł Ciȩszczyk
Prof. Dr. Alison V. September
Prof. Dr. Ildus I. Ahmetov
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • sport genetics
  • genetics of musculoskeletal phenotypes
  • genetic influence on athletic performance
  • genetics of exercise-related injuries
  • nutrigenetics
  • genomics
  • epigenomics

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Published Papers (5 papers)

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Research

7 pages, 425 KiB  
Communication
Replicative Study in Performance-Related Genes of Brazilian Elite Soccer Players Highlights Genetic Differences from African Ancestry and Similarities between Professional and U20 Youth Athletes
by Tane Kanope, Caleb G. M. Santos, Feliciana Marinho, Gustavo Monnerat, Mario Campos-Junior, Ana Carolina P. da Fonseca, Verônica M. Zembrzuski, Miller de Assis, Michael W. Pfaffl and Eduardo Pimenta
Genes 2023, 14(7), 1446; https://doi.org/10.3390/genes14071446 - 14 Jul 2023
Cited by 1 | Viewed by 1549
Abstract
Classically, genetic association studies have attempted to assess genetic polymorphisms related to human physiology and physical performance. However, the heterogeneity of some findings drives the research to replicate, validate, and confirmation as essential aspects for ensuring their applicability in sports sciences. Genetic distance [...] Read more.
Classically, genetic association studies have attempted to assess genetic polymorphisms related to human physiology and physical performance. However, the heterogeneity of some findings drives the research to replicate, validate, and confirmation as essential aspects for ensuring their applicability in sports sciences. Genetic distance matrix and molecular variance analyses may offer an alternative approach to comparing athletes’ genomes with those from public databases. Thus, we performed a complete sequencing of 44 genomes from male Brazilian first-division soccer players under 20 years of age (U20_BFDSC). The performance-related SNP genotypes were obtained from players and from the “1000 Genomes” database (European, African, American, East Asian, and South Asian). Surprisingly, U20_BFDSC performance-related genotypes had significantly larger FST levels (p < 0.00001) than African populations, although studies using ancestry markers have shown an important similarity between Brazilian and African populations (12–24%). U20_BFDSC were genetically similar to professional athletes, showing the intense genetic selection pressure likely to occur before this maturation stage. Our study highlighted that performance-related genes might undergo selective pressure due to physical performance and environmental, cognitive, and sociocultural factors. This replicative study suggests that molecular variance and Wright’s statistics can yield novel conclusions in exercise science. Full article
(This article belongs to the Special Issue Genetics, Sports and Training)
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10 pages, 498 KiB  
Article
Maturity-Associated Polygenic Profiles of under 12–16-Compared to under 17–23-Year-Old Male English Academy Football Players
by Alexander B. T. McAuley, Ian Varley, Adam J. Herbert, Bruce Suraci, Joseph Baker, Kathryn Johnston and Adam L. Kelly
Genes 2023, 14(7), 1431; https://doi.org/10.3390/genes14071431 - 12 Jul 2023
Cited by 3 | Viewed by 1740
Abstract
The purpose of this study was to examine polygenic profiles previously associated with maturity timing in male academy football players across different age phases. Thus, 159 male football players from four English academies (U12–16, n = 86, aged 13.58 ± 1.58 years; U17–23, [...] Read more.
The purpose of this study was to examine polygenic profiles previously associated with maturity timing in male academy football players across different age phases. Thus, 159 male football players from four English academies (U12–16, n = 86, aged 13.58 ± 1.58 years; U17–23, n = 73, aged 18.07 ± 1.69 years) and 240 male European controls were examined. Polygenic profiles comprised 39 single nucleotide polymorphisms and were analysed using unweighted and weighted total genotype scores (TGSs; TWGSs). There were significant differences in polygenic profiles between groups, whereby U17–23 players had more genetic variants associated with later maturity compared to U12–16 players (TGS, p = 0.010; TWGS, p = 0.024) and controls (TGS, p = 0.038; TWGS, p = 0.020). More specifically, U17–23 players had over two-times the odds of possessing >36 later-maturing alleles than <30 compared to U12–16 players (odds ratio (OR) = 2.84) and controls (OR = 2.08). These results suggest there was a greater proportion of relatively later-maturing players as maturation plateaus towards adulthood, which may be explained by the ‘underdog hypothesis’. This study provides the first known molecular evidence that supports the notion that a maturity selection bias exists within male academy football. Full article
(This article belongs to the Special Issue Genetics, Sports and Training)
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11 pages, 1299 KiB  
Article
Exome-Wide Association Study of Competitive Performance in Elite Athletes
by Celal Bulgay, Anıl Kasakolu, Hasan Hüseyin Kazan, Raluca Mijaica, Erdal Zorba, Onur Akman, Isık Bayraktar, Rıdvan Ekmekci, Seyrani Koncagul, Korkut Ulucan, Ekaterina A. Semenova, Andrey K. Larin, Nikolay A. Kulemin, Edward V. Generozov, Lorand Balint, Georgian Badicu, Ildus I. Ahmetov and Mehmet Ali Ergun
Genes 2023, 14(3), 660; https://doi.org/10.3390/genes14030660 - 6 Mar 2023
Cited by 14 | Viewed by 3984
Abstract
The aim of the study was to identify genetic variants associated with personal best scores in Turkish track and field athletes and to compare allelic frequencies between sprint/power and endurance athletes and controls using a whole-exome sequencing (WES) approach, followed by replication studies [...] Read more.
The aim of the study was to identify genetic variants associated with personal best scores in Turkish track and field athletes and to compare allelic frequencies between sprint/power and endurance athletes and controls using a whole-exome sequencing (WES) approach, followed by replication studies in independent cohorts. The discovery phase involved 60 elite Turkish athletes (31 sprint/power and 29 endurance) and 20 ethnically matched controls. The replication phase involved 1132 individuals (115 elite Russian sprinters, 373 elite Russian endurance athletes (of which 75 athletes were with VO2max measurements), 209 controls, 148 Russian and 287 Finnish individuals with muscle fiber composition and cross-sectional area (CSA) data). None of the single nucleotide polymorphisms (SNPs) reached an exome-wide significance level (p < 2.3 × 10−7) in genotype–phenotype and case–control studies of Turkish athletes. However, of the 53 nominally (p < 0.05) associated SNPs, four functional variants were replicated. The SIRT1 rs41299232 G allele was significantly over-represented in Turkish (p = 0.047) and Russian (p = 0.018) endurance athletes compared to sprint/power athletes and was associated with increased VO2max (p = 0.037) and a greater proportion of slow-twitch muscle fibers (p = 0.035). The NUP210 rs2280084 A allele was significantly over-represented in Turkish (p = 0.044) and Russian (p = 0.012) endurance athletes compared to sprint/power athletes. The TRPM2 rs1785440 G allele was significantly over-represented in Turkish endurance athletes compared to sprint/power athletes (p = 0.034) and was associated with increased VO2max (p = 0.008). The AGRN rs4074992 C allele was significantly over-represented in Turkish sprint/power athletes compared to endurance athletes (p = 0.037) and was associated with a greater CSA of fast-twitch muscle fibers (p = 0.024). In conclusion, we present the first WES study of athletes showing that this approach can be used to identify novel genetic markers associated with exercise- and sport-related phenotypes. Full article
(This article belongs to the Special Issue Genetics, Sports and Training)
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17 pages, 2172 KiB  
Article
Impacts of Eccentric Resistance Exercise on DNA Methylation of Candidate Genes for Inflammatory Cytokines in Skeletal Muscle and Leukocytes of Healthy Males
by David John Hunter, Lynsey S. James, Bethan Hussey, Richard A. Ferguson, Martin R. Lindley and Sarabjit S. Mastana
Genes 2023, 14(2), 478; https://doi.org/10.3390/genes14020478 - 13 Feb 2023
Cited by 7 | Viewed by 2522
Abstract
Physical inactivity and a poor diet increase systemic inflammation, while chronic inflammation can be reduced through exercise and nutritional interventions. The mechanisms underlying the impacts of lifestyle interventions on inflammation remain to be fully explained; however, epigenetic modifications may be critical. The purpose [...] Read more.
Physical inactivity and a poor diet increase systemic inflammation, while chronic inflammation can be reduced through exercise and nutritional interventions. The mechanisms underlying the impacts of lifestyle interventions on inflammation remain to be fully explained; however, epigenetic modifications may be critical. The purpose of our study was to investigate the impacts of eccentric resistance exercise and fatty acid supplementation on DNA methylation and mRNA expression of TNF and IL6 in skeletal muscle and leukocytes. Eight non-resistance exercise-trained males completed three bouts of isokinetic eccentric contractions of the knee extensors. The first bout occurred at baseline, the second occurred following a three-week supplementation of either omega-3 polyunsaturated fatty acid or extra virgin olive oil and the final bout occurred after eight-weeks of eccentric resistance training and supplementation. Acute exercise decreased skeletal muscle TNF DNA methylation by 5% (p = 0.031), whereas IL6 DNA methylation increased by 3% (p = 0.01). Leukocyte DNA methylation was unchanged following exercise (p > 0.05); however, three hours post-exercise the TNF DNA methylation decreased by 2% (p = 0.004). In skeletal muscle, increased TNF and IL6 mRNA expression levels were identified immediately post-exercise (p < 0.027); however, the leukocyte mRNA expression was unchanged. Associations between DNA methylation and markers of exercise performance, inflammation and muscle damage were identified (p < 0.05). Acute eccentric resistance exercise is sufficient to induce tissue-specific DNA methylation modifications to TNF and IL6; however, neither eccentric training nor supplementation was sufficient to further modify the DNA methylation. Full article
(This article belongs to the Special Issue Genetics, Sports and Training)
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10 pages, 1277 KiB  
Article
KIBRA Gene Variant Is Associated with Ability in Chess and Science
by Ildus I. Ahmetov, Elena V. Valeeva, Meruert B. Yerdenova, Gaukhar K. Datkhabayeva, Amal Bouzid, Poorna Manasa Bhamidimarri, Liliya M. Sharafetdinova, Emiliya S. Egorova, Ekaterina A. Semenova, Leysan J. Gabdrakhmanova, Rinat A. Yusupov, Andrey K. Larin, Nikolay A. Kulemin, Edward V. Generozov, Rifat Hamoudi, Almira M. Kustubayeva and Tim Rees
Genes 2023, 14(1), 204; https://doi.org/10.3390/genes14010204 - 13 Jan 2023
Cited by 5 | Viewed by 7699
Abstract
The kidney and brain expressed protein (KIBRA) plays an important role in synaptic plasticity. Carriers of the T allele of the KIBRA (WWC1) gene rs17070145 C/T polymorphism have been reported to have enhanced spatial ability and to outperform individuals with the [...] Read more.
The kidney and brain expressed protein (KIBRA) plays an important role in synaptic plasticity. Carriers of the T allele of the KIBRA (WWC1) gene rs17070145 C/T polymorphism have been reported to have enhanced spatial ability and to outperform individuals with the CC genotype in working memory tasks. Since ability in chess and science is directly related to spatial ability and working memory, we hypothesized that the KIBRA T allele would be positively associated with chess player status and PhD status in science. We tested this hypothesis in a study involving 2479 individuals (194 chess players, 119 PhD degree holders in STEM fields, and 2166 controls; 1417 males and 1062 females) from three ethnicities (236 Kazakhs, 1583 Russians, 660 Tatars). We found that frequencies of the T allele were significantly higher in Kazakh (66.9 vs. 55.1%; p = 0.024), Russian (44.8 vs. 32.0%; p = 0.0027), and Tatar (51.5 vs. 41.8%; p = 0.035) chess players compared with ethnically matched controls (meta-analysis for CT/TT vs. CC: OR = 2.05, p = 0.0001). In addition, none of the international chess grandmasters (ranked among the 80 best chess players in the world) were carriers of the CC genotype (0 vs. 46.3%; OR = 16.4, p = 0.005). Furthermore, Russian and Tatar PhD holders had a significantly higher frequency of CT/TT genotypes compared with controls (meta-analysis: OR = 1.71, p = 0.009). Overall, this is the first study to provide comprehensive evidence that the rs17070145 C/T polymorphism of the KIBRA gene may be associated with ability in chess and science, with the T allele exerting a beneficial effect. Full article
(This article belongs to the Special Issue Genetics, Sports and Training)
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