Genetics and Sports Performance

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

Deadline for manuscript submissions: closed (10 January 2022) | Viewed by 14915

Special Issue Editors


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Guest Editor
Centre for Sport Studies, Rey Juan Carlos University, 28943 Fuenlabrada, Spain
Interests: muscle damage; exercise physiology; exercise testing; sports science; exercise performance; sport physiology; exercise biochemistry; muscle physiology; athletic injuries
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Guest Editor
Exercise and Sport Science, Faculty of Health Sciences, Universidad Francisco de Vitoria, 28223 Pozuelo, Spain
Interests: sports performance; elite athletes; nutrition; ergogenic aids; genetics; nutrigenomic; microbiome; health sciences
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

The impact of genetics on human physiology and on physical performance during exercise is one of the oldest research topics in sports, as the positive sway of hereditary factors has been deemed an indispensable condition to succeed in sport for decades. In the 1970s, seminal investigations aiming to determine the influence of genetics on exercise and sports performance compared values of aerobic capacity, strength, and power between identical (monozygotic) and fraternal (dizygotic) twins. These investigations were key to confirming that innate factors are responsible for a high proportion of the interindividual variance in physical fitness and exercise capacity. However, the introduction of new genomic analysis methods such as GWAS (genome-wide association studies) and NGS (new-generation sequencing) has entailed a dramatic change in knowledge to specifically determine what genes and polymorphic variants may favor/hinder excel values of physical conditioning capacities. Lastly, the measurement of full genomes in elite athletes will potentially represent a new era to use genetic testing as a tool for personalized exercise training and for talent identification.

To date, more than two hundred polymorphisms have been associated with traits that may directly and indirectly influence exercise and sports performance in several metabolic, muscular, and cardiorespiratory pathways. However, current evidence shows there is still a lack of full knowledge to understand how genetics may influence sports performance, and, especially, how we can use genetic information to enhance current training and talent identification methods. First, even today, the number of studies carried out with elite athletes is scarce, especially for some less popular sports disciplines. Additionally, in most cases, the use of cohorts of elite athletes in studies on this topic has not been accompanied by measurements of “sports performance” phenotypes such as VO2max, one repetition maximum (1RM), muscle power, or other performance factors directly associated with the elite status both in endurance and power modalities. In this regard, some sports disciplines are not only influenced by physical performance traits, as tactic/technical skills, precision/accuracy, decision making, and psychology factors may also be associated to succeeding in some sports. Second, a large portion of studies contains an insufficient cohort of athletes, which may introduce expectancy effects. Lastly, the proportion of studies that have measured the effect of the interrelationship of several genetic variants is still low. In this regard, the use of GWAS and NGS is a step forward toward comprehending the complex nature of the genetics–performance interrelationship, but the applicability of this type of investigation to sports performance is still reduced. Future studies in the coming years should focus on increasing the applicability of their outcomes, elaborating the maps to predict the likelihood of being an elite athlete, as well as on the risk of sports-related injuries or the capacity to obtain benefits from training (i.e., trainability).  

As the guest editors of this Special Issue on “Genetics and Sports Performance”, we kindly invite you to submit a manuscript to Genes, with the final aim of enhancing knowledge regarding how genetics influence sports performance and on 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. Juan Del Coso
Prof. Dr. David Varillas-Delgado
Guest Editors

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Keywords

  • genetics
  • genomics
  • epigenetics
  • single nucleotide polymorphism
  • exercise performance
  • athletic performance
  • sport competition
  • elite athlete
  • women athlete
  • sports competition

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Published Papers (4 papers)

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Research

9 pages, 436 KiB  
Article
Is COL1A1 Gene rs1107946 Polymorphism Associated with Sport Climbing Status and Flexibility?
by Mika Saito, Michał Ginszt, Ekaterina A. Semenova, Myosotis Massidda, Kinga Huminska-Lisowska, Monika Michałowska-Sawczyn, Hiroki Homma, Paweł Cięszczyk, Takanobu Okamoto, Andrey K. Larin, Edward V. Generozov, Piotr Majcher, Koichi Nakazato, Ildus I. Ahmetov and Naoki Kikuchi
Genes 2022, 13(3), 403; https://doi.org/10.3390/genes13030403 - 23 Feb 2022
Cited by 4 | Viewed by 2751
Abstract
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 [...] Read more.
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 < 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. Full article
(This article belongs to the Special Issue Genetics and Sports Performance)
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10 pages, 428 KiB  
Article
Genotype Score for Iron Status Is Associated with Muscle Fiber Composition in Women
by Mizuki Takaragawa, Takuro Tobina, Keisuke Shiose, Ryo Kakigi, Takamasa Tsuzuki, Noriko Ichinoseki-Sekine, Hiroshi Kumagai, Hirofumi Zempo, Eri Miyamoto-Mikami, Hiroyuki Kobayashi, Hisashi Naito and Noriyuki Fuku
Genes 2022, 13(1), 5; https://doi.org/10.3390/genes13010005 - 21 Dec 2021
Cited by 3 | Viewed by 3993
Abstract
Human muscle fiber composition is heterogeneous and mainly determined by genetic factors. A previous study reported that experimentally induced iron deficiency in rats increases the proportion of fast-twitch muscle fibers. Iron status has been reported to be affected by genetic factors. As the [...] Read more.
Human muscle fiber composition is heterogeneous and mainly determined by genetic factors. A previous study reported that experimentally induced iron deficiency in rats increases the proportion of fast-twitch muscle fibers. Iron status has been reported to be affected by genetic factors. As the TMPRSS6 rs855791 T/C and HFE rs1799945 C/G polymorphisms are strongly associated with iron status in humans, we hypothesized that the genotype score (GS) based on these polymorphisms could be associated with the muscle fiber composition in humans. Herein, we examined 214 Japanese individuals, comprising of 107 men and 107 women, for possible associations of the GS for iron status with the proportion of myosin heavy chain (MHC) isoforms (I, IIa, and IIx) as markers of muscle fiber composition. No statistically significant correlations were found between the GS for iron status and the proportion of MHC isoforms in all participants. When the participants were stratified based on sex, women showed positive and negative correlations of the GS with MHC-IIa (age-adjusted p = 0.020) and MHC-IIx (age-adjusted p = 0.011), respectively. In contrast, no correlation was found in men. In women, a 1-point increase in the GS was associated with 2.42% higher MHC-IIa level and 2.72% lower MHC-IIx level. Our results suggest that the GS based on the TMPRSS6 rs855791 T/C and HFE rs1799945 C/G polymorphisms for iron status is associated with muscle fiber composition in women. Full article
(This article belongs to the Special Issue Genetics and Sports Performance)
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11 pages, 1293 KiB  
Article
Genetic Profile in Genes Associated with Cardiorespiratory Fitness in Elite Spanish Male Endurance Athletes
by David Varillas-Delgado, Juan José Tellería Orriols and Juan Del Coso
Genes 2021, 12(8), 1230; https://doi.org/10.3390/genes12081230 - 10 Aug 2021
Cited by 14 | Viewed by 3537
Abstract
Background: most of the research concerning the influence of genetics on endurance performance has been carried out by investigating target genes separately. However, endurance performance is a complex trait that can stem from the interaction of several genes. The objective of this study [...] Read more.
Background: most of the research concerning the influence of genetics on endurance performance has been carried out by investigating target genes separately. However, endurance performance is a complex trait that can stem from the interaction of several genes. The objective of this study was to compare the frequencies of polymorphisms in target genes involving cardiorespiratory functioning in elite endurance athletes vs. non-athlete controls. Methods: genotypic frequencies were determined in 123 elite endurance athletes and in 122 non-athletes. Genotyping of ACE (rs4340), NOS3 (rs2070744 and rs1799983), ADRA2a (rs1800544 and rs553668), ADRB2 (rs1042713 and rs1042714), and BDKRB2 (rs5810761) was performed by polymerase chain reaction. The total genotype score (TGS: from 0 to 100 arbitrary units; a.u.) was calculated from the genotype score in each polymorphism. Results: the mean TGS in non-athletes (47.72 ± 11.29 a.u.) was similar to elite endurance athletes (46.54 ± 11.32 a.u., p = 0.415). The distribution of TGS frequencies were also similar in non-athletes and elite endurance athletes (p = 0.333). There was no TGS cut-off point to discriminate being elite endurance athletes. Conclusions: the genetic profile in the selected genes was similar in elite endurance athletes and in controls, suggesting that the combination of these genes does not determine endurance performance. Full article
(This article belongs to the Special Issue Genetics and Sports Performance)
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11 pages, 1101 KiB  
Article
Muscle Work and Its Relationship with ACE and ACTN3 Polymorphisms Are Associated with the Improvement of Explosive Strength
by Alberto Melián Ortiz, Sofía Laguarta-Val and David Varillas-Delgado
Genes 2021, 12(8), 1177; https://doi.org/10.3390/genes12081177 - 29 Jul 2021
Cited by 16 | Viewed by 3528
Abstract
Background: The potential influence of genetics in athletic performance allows the search for genetic profiles associated with muscular work for the orientation of strength training and sports selection. The purpose of the study was to analyze four muscular exercises for effectiveness in improving [...] Read more.
Background: The potential influence of genetics in athletic performance allows the search for genetic profiles associated with muscular work for the orientation of strength training and sports selection. The purpose of the study was to analyze four muscular exercises for effectiveness in improving explosive strength variables, associated to the genetics in Angiotensin Converting Enzyme (ACE) and α-actinin-3 (ACTN3) polymorphisms. Methods: A randomized controlled trial was conducted on a sample of 80 subjects allocated into four groups: concentric muscle work (CMW), eccentric muscle work (EMW), concentric-eccentric muscle (C-EMW) work and isometric muscular work (IMW), by block and gender randomization. Vertical jump, long jump, power jump, and speed were measured to study explosive strength. Genotypic frequencies of ACE (rs4646994) and ACTN3 (rs1815739) were obtained by polymerase chain reaction. Results: ACE gen showed significant improvements regarding the DD genotype in the Sargent test (p = 0.003) and sprint velocity test (p = 0.017). In the ACTN3 gene, the RR variable obtained improvement results with regard to RX and XX variables in long jump (p < 0.001), Sargent test (p < 0.001) and power jump (p = 0.004). Conclusions: The selected genes demonstrated an influence on the muscle work and the improvement in explosive strength variables with a decisive role regarding the type of muscle work performed. Full article
(This article belongs to the Special Issue Genetics and Sports Performance)
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