Special Issue "Genetic Influence in Exercise 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 (31 July 2020).

Special Issue Editors

Dr. Juan Del Coso

Guest Editor
Universidad Rey Juan Carlos, Madrid, Spain
Interests: exercise, sport, exercise physiology, physical activity, physical performance, anti-doping, substrate oxidation, ergogenic aids, supplements
Prof. Alejandro Lucia
Website
Guest Editor
Universidad Europea, Madrid, Spain.
Interests: human responses and adaptations to physical exercise; genetic factors; animal models; benefits of exercise interventions in various diseased populations in the hospital

Special Issue Information

Dear colleagues,

At the start of the new millennium, research in genetics and athletic performance primarily focused on finding genetic variants potentially associated with athletic success in either endurance or more power/speed-oriented sports events. Notably, numerous studies have compared the frequency of polymorphic alleles or genotypes (i.e., usually for a given single nucleotide polymorphism [SNP]) in elite athletes vs. non-athletic populations. Nonetheless, candidate gene studies focusing on a small number of SNPs are often limited by lack of replication and the small effect size of an individual SNP. More recently, the use of genome-wide association studies or whole genome sequencing has been helping us to get deeper insight into how genetic variants might (or not) influence physical performance. Of note, athletic success is likely a polygenic trait, which is to be kept in mind when designing studies.

On the other hand, one of the problems with the practical application of genetics to exercise performance is that commercially available panels are often based on information obtained from elite athletic populations (provided there are strong candidates to be real ‘sports performance genes’, which to date is not the case). This information might not be applicable to less successful athletes or to the general population (notably, to design proper individualized training programs aiming at improving health markers such as cardiorespiratory or muscle fitness). More research is thus needed on the real applicability of knowledge on genetic factors of exercise performance. In addition, a potential confounder when trying to analyze the evidence available is that well-designed studies reporting no association between genotype and exercise-related phenotypes (i.e., ‘negative findings’) are less likely to receive attention or to be published in strongest journals than those showing one or more ‘positive finding’. In this respect, a balanced view of the evidence available is desirable.   

As the guest editors of the Special Issue “Genetic Influence in Athletic Performance”, we kindly invite you to submit a manuscript to Genes, one of the most read and cited research journals in the field of Genetics. The goal of this Special Issue is to provide evidence on how genetics might influence athletic performance, by finding new potential candidate gene variants and/or providing strong evidence for an association (or lack of association) of previously studied ones. We are interested in manuscripts that deal with the influence of genetics not only on athletic/exercise performance per se but also on performance-related phenotypes, such as response to exercise training (‘trainability’), risk of muscle-skeletal injury, or muscle tissue characteristics. We welcome original articles, systematic reviews, meta-analyses, or opinions.   

Dr. Juan Del Coso
Dr. Alejandro Lucia
Guest Editors

Manuscript Submission Information

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Keywords

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

Published Papers (7 papers)

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Research

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Open AccessArticle
PPARGC1A rs8192678 and NRF1 rs6949152 Polymorphisms Are Associated with Muscle Fiber Composition in Women
Genes 2020, 11(9), 1012; https://doi.org/10.3390/genes11091012 - 27 Aug 2020
Abstract
PPARGC1A rs8192678 G/A (Gly482Ser) and NRF1 rs6949152 A/G polymorphisms have been associated with endurance athlete status, endurance performance phenotypes, and certain health-related markers of different pathologies such as metabolic syndrome, diabetes, and dyslipidemia. We hypothesized that they could be considered interesting candidates for [...] Read more.
PPARGC1A rs8192678 G/A (Gly482Ser) and NRF1 rs6949152 A/G polymorphisms have been associated with endurance athlete status, endurance performance phenotypes, and certain health-related markers of different pathologies such as metabolic syndrome, diabetes, and dyslipidemia. We hypothesized that they could be considered interesting candidates for explaining inter-individual variations in muscle fiber composition in humans. We aimed to examine possible associations of these polymorphisms with myosin heavy-chain (MHC) isoforms as markers of muscle fiber compositions in vastus lateralis muscle in a population of 214 healthy Japanese subjects, aged between 19 and 79 years. No significant associations were found in men for any measured variables. In contrast, in women, the PPARGC1A rs8192678 A/A genotype was significantly associated with a higher proportion of MHC-I (p = 0.042) and with a lower proportion of MHC-IIx (p = 0.033), and the NRF1 rs6949152 AA genotype was significantly associated with a higher proportion of MHC-I (p = 0.008) and with a lower proportion of MHC IIx (p = 0.035). In women, the genotype scores of the modes presenting the most significant results for PPARGC1A rs8192678 G/A (Gly482Ser) and NRF1 rs6949152 A/G polymorphisms were significantly associated with MHC-I (p = 0.0007) and MHC IIx (p = 0.0016). That is, women with combined PPARGC1A A/A and NRF1 A/A genotypes presented the highest proportion of MHC-I and the lowest proportion of MHC-IIx, in contrast to women with combined PPARGC1A GG+GA and NRF1 AG+GG genotypes, who presented the lowest proportion of MHC-I and the highest proportion of MHC-IIx. Our results suggest possible associations between these polymorphisms (both individually and in combination) and the inter-individual variability observed in muscle fiber composition in women, but not in men. Full article
(This article belongs to the Special Issue Genetic Influence in Exercise Performance)
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Open AccessArticle
Effects of CYP1A2 and ADORA2A Genotypes on the Ergogenic Response to Caffeine in Professional Handball Players
Genes 2020, 11(8), 933; https://doi.org/10.3390/genes11080933 - 13 Aug 2020
Cited by 2
Abstract
Previous investigations have found that several genes may be associated with the interindividual variability to the ergogenic response to caffeine. The aim of this study is to analyze the influence of the genetic variations in CYP1A2 (−163C  > A, rs762551; characterized such as [...] Read more.
Previous investigations have found that several genes may be associated with the interindividual variability to the ergogenic response to caffeine. The aim of this study is to analyze the influence of the genetic variations in CYP1A2 (−163C  > A, rs762551; characterized such as “fast” (AA genotype) and “slow” caffeine metabolizers (C-carriers)) and ADORA2A (1976T  > C; rs5751876; characterized by “high” (TT genotype) or “low” sensitivity to caffeine (C-carriers)) on the ergogenic response to acute caffeine intake in professional handball players. Thirty-one professional handball players (sixteen men and fifteen women; daily caffeine intake = 60 ± 25 mg·d−1) ingested 3 mg·kg−1·body mass (bm) of caffeine or placebo 60 min before undergoing a battery of performance tests consisting of a countermovement jump (CMJ), a sprint test, an agility test, an isometric handgrip test, and several ball throws. Afterwards, the handball players performed a simulated handball match (2 × 20 min) while movements were recorded using inertial units. Saliva samples were analyzed to determine the genotype of each player for the −163C  > A polymorphism in the CYP1A2 gene (rs762551) and for the 1976T  > C polymorphism in the ADORA2A gene (rs5751876). In the CYP1A2, C-allele carriers (54.8%) were compared to AA homozygotes (45.2%). In the ADORA2A, C-allele carriers (80.6%) were compared to TT homozygotes (19.4%). There was only a genotype x treatment interaction for the ball throwing from 7 m (p = 0.037) indicating that the ergogenic effect of caffeine on this test was higher in CYP1A2 AA homozygotes than in C-allele carriers. In the remaining variables, there were no genotype x treatment interactions for CYP1A2 or for ADORA2A. As a whole group, caffeine increased CMJ height, performance in the sprint velocity test, and ball throwing velocity from 9 m (2.8–4.3%, p = 0.001–0.022, effect size = 0.17–0.31). Thus, pre-exercise caffeine supplementation at a dose of 3 mg·kg−1·bm can be considered as an ergogenic strategy to enhance some neuromuscular aspects of handball performance in professional handball players with low daily caffeine consumption. However, the ergogenic response to acute caffeine intake was not modulated by CYP1A2 or ADORA2A genotypes. Full article
(This article belongs to the Special Issue Genetic Influence in Exercise Performance)
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Open AccessArticle
Matrix Metalloproteinase Genes (MMP1, MMP10, MMP12) on Chromosome 11q22 and the Risk of Non-Contact Anterior Cruciate Ligament Ruptures
Genes 2020, 11(7), 766; https://doi.org/10.3390/genes11070766 - 08 Jul 2020
Abstract
Background: Sequence variants within the matrix metalloproteinases genes remain plausible biological candidates for further investigation of anterior cruciate ligament (ACL) rupture risk. The aim of the present study was to establish whether variants within the MMP1 (rs1799750, ->G), MMP10 (rs486055, C > T) [...] Read more.
Background: Sequence variants within the matrix metalloproteinases genes remain plausible biological candidates for further investigation of anterior cruciate ligament (ACL) rupture risk. The aim of the present study was to establish whether variants within the MMP1 (rs1799750, ->G), MMP10 (rs486055, C > T) and MMP12 (rs2276109, T > C) genes were associated with non-contact ACL rupture in a Polish cohort. Methods: The unrelated, self-reported Polish Caucasian participants consisted of 228 (157 male) individuals with primary non-contact ACL rupture and 202 (117 male) participants without any history of ACL rupture. All samples were genotyped in duplicate using the Applied Biosystems TaqMan® methodology. The statistical analyses were involved in determining the distribution of genotype and allele frequencies for the investigated polymorphisms between the diagnostic groups. Furthermore, pseudo-haplotypes were constructed to assess possible gene–gene interactions. Results: All genotype frequencies in the ACL rupture and control groups conformed to Hardy Weinberg Equilibrium expectations. None of the polymorphisms were associated with risk of non-contact ACL rupture under the codominant, dominant, recessive and over-dominant genetic models. Likewise, no genotype–genotype combinations inferred as “haplotypes” as a proxy of gene–gene interactions were associated with the risk of non-contact ACL ruptures. Conclusions: Despite the fact that the current study did not support existing evidence suggesting that variants within the MMP1, MMP10, and MMP12 genes influence non-contact ACL rupture risk, future work should include high-throughput sequencing technologies to identify potential targeted polymorphisms to fully characterize the 11q22 region with susceptibility to non-contact ACL rupture susceptibility in a Polish cohort. Full article
(This article belongs to the Special Issue Genetic Influence in Exercise Performance)
Open AccessArticle
AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females
Genes 2020, 11(5), 558; https://doi.org/10.3390/genes11050558 - 16 May 2020
Abstract
Background: The C34T polymorphism (rs 17602729) in adenosine monophosphate deaminase 1 gene (AMPD1) is associated with muscular energy metabolism in exercise. However, the role of its potential modifying impact on exercise-induced changes in obesity related parameters is unknown. The aim of [...] Read more.
Background: The C34T polymorphism (rs 17602729) in adenosine monophosphate deaminase 1 gene (AMPD1) is associated with muscular energy metabolism in exercise. However, the role of its potential modifying impact on exercise-induced changes in obesity related parameters is unknown. The aim of the study was to determine if the C34T polymorphism influences the effects of an exercise training. Methods: This study examines a group of one hundred and sixty-eight, young, non-obese Caucasian women in Poland who took part in a 12-week aerobic training program to determine the impact of allele and genotype distribution on training outcomes. Results: A two-way analysis of variance ANOVA was conducted assuming a dominant model by pooling rare homozygotes and heterozygotes (TT + CT, n = 79) and comparing against common homozygotes (CC, n = 89). Our results showed that the AMPD1 C34T polymorphism was not related with selected parameters in study group. After completing the 12-week training program, a wide array of parameters (body mass, body mass index, fat mass, free fat mass, total body water) were significantly changed in the study participants with the exception of AMPD1 genotypes, among whom no significant changes were observed. Conclusions: The results did not confirm that harboring the rs 17602729 T allele influences the effects of the training program. Full article
(This article belongs to the Special Issue Genetic Influence in Exercise Performance)
Open AccessArticle
Interindividual Variation in Cardiorespiratory Fitness: A Candidate Gene Study in Han Chinese People
Genes 2020, 11(5), 555; https://doi.org/10.3390/genes11050555 - 15 May 2020
Abstract
Cardiorespiratory fitness, as assessed through peak oxygen uptake (VO2peak), is a powerful health indicator. We aimed to evaluate the influence of several candidate causal genetic variants on VO2peak level in untrained Han Chinese people. A total of 1009 participants (566 [...] Read more.
Cardiorespiratory fitness, as assessed through peak oxygen uptake (VO2peak), is a powerful health indicator. We aimed to evaluate the influence of several candidate causal genetic variants on VO2peak level in untrained Han Chinese people. A total of 1009 participants (566 women; age [mean ± SD] 40 ± 14 years, VO2peak 29.9 ± 7.1 mL/kg/min) performed a maximal incremental cycling test for VO2peak determination. Genomic DNA was extracted from peripheral whole blood, and genotyping analysis was performed on 125 gene variants. Using age, sex, and body mass as covariates, and setting a stringent threshold p-value of 0.0004, only one single nucleotide polymorphism (SNP), located in the gene encoding angiotensin-converting enzyme (rs4295), was associated with VO2peak (β = 0.87; p < 2.9 × 10−4). Stepwise multiple regression analysis identified a panel of three SNPs (rs4295 = 1.1%, angiotensin II receptor type 1 rs275652 = 0.6%, and myostatin rs7570532 = 0.5%) that together accounted for 2.2% (p = 0.0007) of the interindividual variance in VO2peak. Participants carrying six ‘favorable’ alleles had a higher VO2peak (32.3 ± 8.1 mL/kg/min) than those carrying only one favorable allele (24.6 ± 5.2 mL/kg/min, p < 0.0001). In summary, VO2peak at the pre-trained state is partly influenced by several polymorphic variations in candidate genes, but they represent a minor portion of the variance. Full article
(This article belongs to the Special Issue Genetic Influence in Exercise Performance)
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Review

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Open AccessReview
The Prospective Study of Epigenetic Regulatory Profiles in Sport and Exercise Monitored Through Chromosome Conformation Signatures
Genes 2020, 11(8), 905; https://doi.org/10.3390/genes11080905 - 07 Aug 2020
Abstract
The integration of genetic and environmental factors that regulate the gene expression patterns associated with exercise adaptation is mediated by epigenetic mechanisms. The organisation of the human genome within three-dimensional space, known as chromosome conformation, has recently been shown as a dynamic epigenetic [...] Read more.
The integration of genetic and environmental factors that regulate the gene expression patterns associated with exercise adaptation is mediated by epigenetic mechanisms. The organisation of the human genome within three-dimensional space, known as chromosome conformation, has recently been shown as a dynamic epigenetic regulator of gene expression, facilitating the interaction of distal genomic regions due to tight and regulated packaging of chromosomes in the cell nucleus. Technological advances in the study of chromosome conformation mean a new class of biomarker—the chromosome conformation signature (CCS)—can identify chromosomal interactions across several genomic loci as a collective marker of an epigenomic state. Investigative use of CCSs in biological and medical research shows promise in identifying the likelihood that a disease state is present or absent, as well as an ability to prospectively stratify individuals according to their likely response to medical intervention. The association of CCSs with gene expression patterns suggests that there are likely to be CCSs that respond, or regulate the response, to exercise and related stimuli. The present review provides a contextual background to CCS research and a theoretical framework discussing the potential uses of this novel epigenomic biomarker within sport and exercise science and medicine. Full article
(This article belongs to the Special Issue Genetic Influence in Exercise Performance)
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Open AccessReview
Can Genetic Testing Identify Talent for Sport?
Genes 2019, 10(12), 972; https://doi.org/10.3390/genes10120972 - 26 Nov 2019
Cited by 7
Abstract
Elite athlete status is a partially heritable trait, as are many of the underpinning physiological, anthropometrical, and psychological traits that contribute to elite performance. In recent years, our understanding of the specific genetic variants that contribute to these traits has grown, such that [...] Read more.
Elite athlete status is a partially heritable trait, as are many of the underpinning physiological, anthropometrical, and psychological traits that contribute to elite performance. In recent years, our understanding of the specific genetic variants that contribute to these traits has grown, such that there is considerable interest in attempting to utilise genetic information as a tool to predict future elite athlete status. In this review, we explore the extent of the genetic influence on the making of a sporting champion and we describe issues which, at present, hamper the utility of genetic testing in identifying future elite performers. We build on this by exploring what further knowledge is required to enhance this process, including a reflection on the potential learnings from the use of genetics as a disease prediction tool. Finally, we discuss ways in which genetic information may hold utility within elite sport in the future, including guiding nutritional and training recommendations, and assisting in the prevention of injury. Whilst genetic testing has the potential to assist in the identification of future talented performers, genetic tests should be combined with other tools to obtain an accurate identification of those athletes predisposed to succeed in sport. The use of total genotype scores, composed of a high number of performance-enhancing polymorphisms, will likely be one of the best strategies in the utilisation of genetic information to identify talent in sport. Full article
(This article belongs to the Special Issue Genetic Influence in Exercise Performance)
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