Genetics and Genomics in Sport

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 July 2021) | Viewed by 53721

Special Issue Editors


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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

E-Mail Website
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

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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

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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,

The inter-individual diversity observed at many different levels, both in professional players and in physically active people, quite early led to hypotheses that genes may play a crucial role in developing features that are important in sport. There is evidence that there is a heritability component to athletic performance including injury susceptibility. It is becoming widely accepted that genetic factors have a great influence on athletic performance in individual athletes who are carriers of specified genetic sequence variants. The diversity of the human genome together with other factors markedly influences variables such as endurance, strength, flexibility, neuromuscular coordination, psychological features as well as injury susceptibility and many other properties relevant to the body's recovery and adaptation to physical exertion.

However, the exact biological mechanisms underpinning the relationship between the genome and the variations we see in sport, still remains largely uncharacterized. It should be emphasized that when talking about sports genetics, we should expand our thinking beyond the context of the genomic DNA sequences. The identification of the multitude of DNA sequence variants in athletes representing different sport disciplines and/or in sedentary participants - even in the high-throughput model of the Genome Wide Association Study - marks the beginning of this fascinating journey towards unraveling our understanding of the influence of the genome on the function of the human body. To go further, it is necessary to explore the epigenetic changes that affect how such diverse DNA sequences modulate the processes of gene expression. The next key step is to describe and understand the differences in the expression levels of specific genes (regulated both at the transcriptional and post-transcriptional levels) that are observed during physical activity. There are also many interesting issues relating to the role of mtDNA in mitochondrial function and energy metabolism control at the cellular level, involvement of micrRNA in the regulation of many genetic processes as well as the importance of cfDNA as markers of overtraining and the development of inflammation within intensely trained athletes etc. The multitude of issues makes it impossible to exhaust the subject of our special issue, but we hope that at least some of them will be interesting and inspiring for you to make new challenges in the field of genetics and genomics in sport.

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

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Keywords

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

Published Papers (19 papers)

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9 pages, 409 KiB  
Article
Genes and Weightlifting Performance
by Naoki Kikuchi, Ethan Moreland, Hiroki Homma, Ekaterina A. Semenova, Mika Saito, Andrey K. Larin, Naoyuki Kobatake, Rinat A. Yusupov, Takanobu Okamoto, Koichi Nakazato, Alun G. Williams, Edward V. Generozov and Ildus I. Ahmetov
Genes 2022, 13(1), 25; https://doi.org/10.3390/genes13010025 - 23 Dec 2021
Cited by 12 | Viewed by 5294
Abstract
A recent case-control study identified 28 DNA polymorphisms associated with strength athlete status. However, studies of genotype-phenotype design are required to support those findings. The aim of the present study was to investigate both individually and in combination the association of 28 genetic [...] Read more.
A recent case-control study identified 28 DNA polymorphisms associated with strength athlete status. However, studies of genotype-phenotype design are required to support those findings. The aim of the present study was to investigate both individually and in combination the association of 28 genetic markers with weightlifting performance in Russian athletes and to replicate the most significant findings in an independent cohort of Japanese athletes. Genomic DNA was collected from 53 elite Russian (31 men and 22 women, 23.3 ± 4.1 years) and 100 sub-elite Japanese (53 men and 47 women, 21.4 ± 4.2 years) weightlifters, and then genotyped using PCR or micro-array analysis. Out of 28 DNA polymorphisms, LRPPRC rs10186876 A, MMS22L rs9320823 T, MTHFR rs1801131 C, and PHACTR1 rs6905419 C alleles positively correlated (p < 0.05) with weightlifting performance (i.e., total lifts in snatch and clean and jerk in official competitions adjusted for sex and body mass) in Russian athletes. Next, using a polygenic approach, we found that carriers of a high (6–8) number of strength-related alleles had better competition results than carriers of a low (0–5) number of strength-related alleles (264.2 (14.7) vs. 239.1 (21.9) points; p = 0.009). These findings were replicated in the study of Japanese athletes. More specifically, Japanese carriers of a high number of strength-related alleles were stronger than carriers of a low number of strength-related alleles (212.9 (22.6) vs. 199.1 (17.2) points; p = 0.0016). In conclusion, we identified four common gene polymorphisms individually or in combination associated with weightlifting performance in athletes from East European and East Asian geographic ancestries. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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8 pages, 237 KiB  
Article
Evaluation of the Association of COMT Rs4680 Polymorphism with Swimmers’ Competitive Performance
by Piotr Zmijewski, Agata Leońska-Duniec, Aleksander Stuła and Marek Sawczuk
Genes 2021, 12(10), 1641; https://doi.org/10.3390/genes12101641 - 19 Oct 2021
Cited by 7 | Viewed by 1918
Abstract
Swimmers’ competitive performance is a result of complicated interactions between physiological, biochemical, physical and psychological factors, all of which are strongly affected by water. Recently, great attention has been paid to the role of genetic factors such as the catechol-O-methyltransferase gene (COMT [...] Read more.
Swimmers’ competitive performance is a result of complicated interactions between physiological, biochemical, physical and psychological factors, all of which are strongly affected by water. Recently, great attention has been paid to the role of genetic factors such as the catechol-O-methyltransferase gene (COMT) influencing motivation, emotions, stress tolerance, self-control, sleep regulation, pain processing and perception, addictive behaviour and neurodegeneration, which may underlie differences in achieving remarkable results in sports competition. Thus, this study was performed to investigate the association between the COMT Val158Met (rs4680) polymorphism and athletic performance in Caucasian swimmers. A total of 225 swimmers (171 short distance (SDS) and 54 long distance swimmers (LDS)) of national or international competitive standard and 379 unrelated sedentary controls were genotyped using real-time polymerase chain reaction (real-time PCR). We found no significant differences in genotypic or allelic distributions between (1) male and female athletes; (2) SDS and LDS; (3) all athletes and sedentary controls (under codominant, dominant, recessive, and overdominant genetic models). No association was found between the COMT rs4680 polymorphism and elite swimming athlete status of the studied population. However, more replication studies are needed. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
11 pages, 1479 KiB  
Article
COVID-19 Infection Alters the Microbiome: Elite Athletes and Sedentary Patients Have Similar Bacterial Flora
by Gergely Babszky, Ferenc Torma, Dora Aczel, Peter Bakonyi, Zoltan Gombos, Janos Feher, Dóra Szabó, Balázs Ligeti, Sándor Pongor, Laszlo Balogh, Anikó Pósa and Zsolt Radak
Genes 2021, 12(10), 1577; https://doi.org/10.3390/genes12101577 - 4 Oct 2021
Cited by 6 | Viewed by 3792
Abstract
Regular exercise can upgrade the efficiency of the immune system and beneficially alter the composition of the gastro-intestinal microbiome. We tested the hypothesis that active athletes have a more diverse microbiome than sedentary subjects, which could provide better protection against COVID-19 during infection. [...] Read more.
Regular exercise can upgrade the efficiency of the immune system and beneficially alter the composition of the gastro-intestinal microbiome. We tested the hypothesis that active athletes have a more diverse microbiome than sedentary subjects, which could provide better protection against COVID-19 during infection. Twenty active competing athletes (CA) (16 male and 4 females of the national first and second leagues), aged 24.15 ± 4.7 years, and 20 sedentary subjects (SED) (15 male and 5 females), aged 27.75 ± 7.5 years, who had been diagnosed as positive for COVID-19 by a PCR test, served as subjects for the study. Fecal samples collected five to eight days after diagnosis and three weeks after a negative COVID-19 PCR test were used for microbiome analysis. Except for two individuals, all subjects reported very mild and/or mild symptoms of COVID-19 and stayed at home under quarantine. Significant differences were not found in the bacterial flora of trained and untrained subjects. On the other hand, during COVID-19 infection, at the phylum level, the relative abundance of Bacteroidetes was elevated during COVID-19 compared to the level measured three weeks after a negative PCR test (p < 0.05) when all subjects were included in the statistical analysis. Since it is known that Bacteroidetes can suppress toll-like receptor 4 and ACE2-dependent signaling, thus enhancing resistance against pro-inflammatory cytokines, it is suggested that Bacteroidetes provide protection against severe COVID-19 infection. There is no difference in the microbiome bacterial flora of trained and untrained subjects during and after a mild level of COVID-19 infection. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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8 pages, 261 KiB  
Article
CKM Gene rs8111989 Polymorphism and Power Athlete Status
by Valentina Ginevičienė, Audronė Jakaitienė, Algirdas Utkus, Elliott C. R. Hall, Ekaterina A. Semenova, Liliya B. Andryushchenko, Andrey K. Larin, Ethan Moreland, Edward V. Generozov and Ildus I. Ahmetov
Genes 2021, 12(10), 1499; https://doi.org/10.3390/genes12101499 - 25 Sep 2021
Cited by 8 | Viewed by 2763
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
9 pages, 273 KiB  
Article
IL-6 Polymorphisms Are Not Related to Obesity Parameters in Physically Active Young Men
by Ewelina Maculewicz, Bożena Antkowiak, Oktawiusz Antkowiak, Andrzej Mastalerz, Agnieszka Białek, Anna Cywińska, Anna Borecka, Kinga Humińska-Lisowska, Aleksandra Garbacz, Katarzyna Lorenz, Ewa Szarska, Monika Michałowska-Sawczyn, Łukasz Dziuda and Paweł Cięszczyk
Genes 2021, 12(10), 1498; https://doi.org/10.3390/genes12101498 - 25 Sep 2021
Cited by 12 | Viewed by 1999
Abstract
Interleukin 6 (IL-6) is a cytokine with both pro- and anti-inflammatory actions, but is also considered as a “metabolic hormone” involved in immune responses, affecting glucose, protein and lipid metabolism. It has been proposed to be related to obesity, but various results have [...] Read more.
Interleukin 6 (IL-6) is a cytokine with both pro- and anti-inflammatory actions, but is also considered as a “metabolic hormone” involved in immune responses, affecting glucose, protein and lipid metabolism. It has been proposed to be related to obesity, but various results have been presented. Thus, in this study, the very homogenous population of young, male military professionals, living in the same conditions involving high physical activity, has been selected to avoid the influence of environmental factors. The subjects were divided into groups depending on the obesity parameters BMI (body mass index) and fat percentage (fat%), and the following IL-6 SNPs (Single Nucleotide Polymorphisms) were analyzed: rs1800795, rs1800796 and rs13306435. No relation was found between obesity parameters and IL-6 polymorphisms rs1800795, rs1800796 and rs13306435. It may be postulated that even if a genetic predisposition involves IL-6 genes, this effect in individuals with obesity of a low grade is minor, or can be avoided or at least markedly reduced by changes in lifestyle. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
16 pages, 1014 KiB  
Article
Influence of DAT1 Promotor Methylation on Sports Performance
by Anna Grzywacz, Krzysztof Chmielowiec, Agnieszka Boroń, Monika Michałowska-Sawczyn, Jolanta Chmielowiec, Grzegorz Trybek, Bożena Mroczek, Katarzyna Leźnicka, Paweł Cieszczyk and Jolanta Masiak
Genes 2021, 12(9), 1425; https://doi.org/10.3390/genes12091425 - 16 Sep 2021
Cited by 7 | Viewed by 1933
Abstract
In the mammalian genome, DNA methylation is an epigenetic mechanism involving the transfer of a methyl group onto the C5 position of the cytosine to form 5-methylcytosine. DNA methylation regulates gene expression by recruiting proteins involved in gene repression or by inhibiting the [...] Read more.
In the mammalian genome, DNA methylation is an epigenetic mechanism involving the transfer of a methyl group onto the C5 position of the cytosine to form 5-methylcytosine. DNA methylation regulates gene expression by recruiting proteins involved in gene repression or by inhibiting the binding of transcription factors (TFs) to DNA. As there are still many questions concerning the role of methylation in creating personality, we concentrated on searching for such associations. The research group was 100 sports male subjects (mean age = 22.88, SD = 6.35), whereas the control group included 239 healthy male volunteers matched for age (mean age = 21.69, SD = 3.39), both of European origin. The methods used in our research were as follows: DNA isolation, methylation-specific PCR, sequencing chromatophores, all conducted according to the manufacturer’s procedure. To evaluate personality traits, the NEO Five-Factor Personality Inventory (NEO-FFI) and STAI Inventory were used. We observed the existence of a statistically significant correlation for all the aspects of personality covered and CpG islands’ methylation. Nonetheless, we think that the tested group and the number of tested promotor islands in the DAT1 gene are still too small to make explicit conclusions, so it needs further profound analysis. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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11 pages, 604 KiB  
Article
Association Analysis of Polymorphic Variants of the BDNF Gene in Athletes
by Marta Niewczas, Paweł Król, Wojciech Czarny, Wojciech Bajorek, Marian Rzepko, Sławomir Drozd, Artur Płonka, Monika Drozd, Robert Czaja, Wiesław Błach, Pavel Ruzbarsky, Krzysztof Chmielowiec, Monika Michałowska-Sawczyn and Anna Grzywacz
Genes 2021, 12(9), 1340; https://doi.org/10.3390/genes12091340 - 28 Aug 2021
Cited by 2 | Viewed by 2027
Abstract
As BDNF is one of the group of neurotrophins highly influencing the processes happening in the brain, such as the processes of learning and personality creation, we decided to look closer at its genetic variations in association with the personality of a group [...] Read more.
As BDNF is one of the group of neurotrophins highly influencing the processes happening in the brain, such as the processes of learning and personality creation, we decided to look closer at its genetic variations in association with the personality of a group of athletes and their controls. The study group consisted of 305 volunteers: martial arts athletes (n = 153; mean age = 24.06) and healthy non-athletes as controls (n = 152; mean age = 22.23). Thirty-eight percent of the martial arts group achieved the championship level. Both the martial arts and control subjects were examined using the NEO Five-Factor Personality Inventory (NEO-FFI) and the State-Trait Anxiety Inventory (STAI) scales. The results of the NEO-FFI and STAI inventories were given as sten scores. The conversion of the raw score to the sten scale was performed according to Polish norms for adults. Genomic DNA was extracted from blood leukocytes and then genotyped using a PCR method for the following polymorphisms: BDNF rs10767664 and BDNF rs2030323. We observed statistical significance for both polymorphisms when comparing martial arts athletes with the control group in relation to the conscientiousness and extraversion scales. However, since few extant articles consider this association, our results still require further analysis, probably by considering a larger group. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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8 pages, 262 KiB  
Article
Analysis of Selected Variants of DRD2 and ANKK1 Genes in Combat Athletes
by Monika Michałowska-Sawczyn, Krzysztof Chmielowiec, Jolanta Chmielowiec, Grzegorz Trybek, Jolanta Masiak, Marta Niewczas, Paweł Cieszczyk, Wojciech Bajorek, Paweł Król and Anna Grzywacz
Genes 2021, 12(8), 1239; https://doi.org/10.3390/genes12081239 - 13 Aug 2021
Cited by 2 | Viewed by 2138
Abstract
The level of physical activity is conditioned by many different factors, including, among others, the personality traits of a person. Important is the fact that personality traits are a moderately heritable factor and on the basis of the analysis of several genes, various [...] Read more.
The level of physical activity is conditioned by many different factors, including, among others, the personality traits of a person. Important is the fact that personality traits are a moderately heritable factor and on the basis of the analysis of several genes, various lifetime outcomes can be predicted. One of the most important pathways influencing personality traits is connected to the dopaminergic system; hence, we decided to analyze the DRD2 PROM. rs1799732, DRD2 rs1076560, DRD2 Tag1D rs1800498, DRD2 Ex8 rs6276, DRD2Tag1B rs1079597 and ANKK1 Tag1A rs180049. The research group included 258 male athletes (mean age = 26.02; SD = 8.30), whereas the control group was 284 healthy male volunteers matched for age (mean age = 22.89; SD = 4.78), both of Caucasian origin and without history of substance dependency or psychosis. Genomic DNA was extracted from venous blood using standard procedures. Genotyping was conducted with the real-time PCR method. Differences in the frequency of the DRD2Tag1B rs1079597 gene polymorphism were found between people practicing combat sports and the control group, and the DRD2 PROM. rs1799732, DRD2 rs1076560, DRD2 Tag1D rs1800498, DRD2 Ex8 rs6276, DRD2Tag1B rs1079597 and ANKK1 Tag1A rs1800497 genotypes and allele frequencies in the studied sample did not differ between the analyzed groups. Hence, we considered these polymorphic places as an interesting area for the further search for unambiguous associations between personality traits and attitude towards physical effort. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
10 pages, 674 KiB  
Article
cfDNA Changes in Maximal Exercises as a Sport Adaptation Predictor
by Kinga Humińska-Lisowska, Jan Mieszkowski, Andrzej Kochanowicz, Błażej Stankiewicz, Bartłomiej Niespodziński, Paulina Brzezińska, Krzysztof Ficek, Eglė Kemerytė-Ivanauskienė and Paweł Cięszczyk
Genes 2021, 12(8), 1238; https://doi.org/10.3390/genes12081238 - 12 Aug 2021
Cited by 7 | Viewed by 2310
Abstract
Changes of circulating free plasma DNA (cfDNA) are associated with different types of tissue injury, including those induced by intensive aerobic and anaerobic exercises. Observed changes are dependent from induced inflammation, and thus it may be a potential marker for athletic overtraining. We [...] Read more.
Changes of circulating free plasma DNA (cfDNA) are associated with different types of tissue injury, including those induced by intensive aerobic and anaerobic exercises. Observed changes are dependent from induced inflammation, and thus it may be a potential marker for athletic overtraining. We aimed to identify the response of cfDNA to different types of exercise, with association to exercise intensity as a potential marker of exercise load. Fifty volunteers (25 athletes and 25 physically active men) were assigned to the study and performed maximal aerobic (Bruce test) and anaerobic (Wingate Anaerobic Test) test. Blood samples for cfDNA analysis were collected at four time-points: before, 2–5 min after, 30 min after and 60 min after each type of maximal physical activity. The two-way ANOVA revealed a significant effect of group factor on serum cfDNA concentrations (32.15% higher concentration of cfDNA in the athletes). In turn the results of the post hoc test for the interaction of the repeated measures factor and the group showed that while the concentration of cfDNA decreased by 40.10% in the period from 30 min to 60 min after exercise in the control group, the concentration of cfDNA in the group of athletes remained at a similar level. Our analysis presents different responses depending on the intensity and duration of exercise. Our observations imply that formation of cfDNA is associated with response to physical activity but only during maximal effort. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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11 pages, 399 KiB  
Article
Analysis of DRD2 Gene Polymorphism in the Context of Personality Traits in a Group of Athletes
by Krzysztof Chmielowiec, Monika Michałowska-Sawczyn, Jolanta Masiak, Jolanta Chmielowiec, Grzegorz Trybek, Marta Niewczas, Wojciech Czarny, Paweł Cieszczyk, Myosotis Massidda, Patrizia Proia and Anna Grzywacz
Genes 2021, 12(8), 1219; https://doi.org/10.3390/genes12081219 - 6 Aug 2021
Cited by 1 | Viewed by 2129
Abstract
The presented study showed the relationship between dopamine receptor gene polymorphism and personality traits in athletes training in martial arts. Behavioral modulation resulting from a balance of the neurotransmitters dopamine and norepinephrine to inactivation of the dorsolateral prefrontal cortex and dysregulation of various [...] Read more.
The presented study showed the relationship between dopamine receptor gene polymorphism and personality traits in athletes training in martial arts. Behavioral modulation resulting from a balance of the neurotransmitters dopamine and norepinephrine to inactivation of the dorsolateral prefrontal cortex and dysregulation of various pathways involved in attention and impulse control processes; Methods: The study was conducted among martial arts athletes. The study group included 258 volunteers and 284 controls. The genetic test was performed using the real-time PCR method; psychological tests were performed using standardized TCI questionnaires. All analyses were performed using STATISTICA 13. Results: Interaction between martial arts and DRD2 rs1799732 (manual) G/-(VIC/FAM)-ins/del and RD- Harm avoidance and Reward Dependence scale were demonstrated. In athletes, a lower Reward Dependence scale score was associated with the DRD2 rs1799732 (manual)-/-polymorphism compared to the control group. Conclusions: It seems justified to study not only genetic aspects related to brain transmission dopamine in martial arts athletes. In the studied athletes, the features related to reward addiction and harm avoidance are particularly important in connection with the dopaminergic reward system in the brain. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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11 pages, 459 KiB  
Article
Association between Polymorphism rs1799732 of DRD2 Dopamine Receptor Gene and Personality Traits among MMA Athletes
by Marta Niewczas, Anna Grzywacz, Katarzyna Leźnicka, Krzysztof Chmielowiec, Jolanta Chmielowiec, Agnieszka Maciejewska-Skrendo, Pavel Ruzbarsky, Jolanta Masiak, Wojciech Czarny and Paweł Cięszczyk
Genes 2021, 12(8), 1217; https://doi.org/10.3390/genes12081217 - 6 Aug 2021
Cited by 4 | Viewed by 2974
Abstract
Four factors—namely, harm avoidance, novelty seeking, reward addiction and persistence—represent the nature of temperament that is not genetically determined in itself. It was shown in earlier studies that a strong propensity to look for novelty or a tendency to engage in risky behavior [...] Read more.
Four factors—namely, harm avoidance, novelty seeking, reward addiction and persistence—represent the nature of temperament that is not genetically determined in itself. It was shown in earlier studies that a strong propensity to look for novelty or a tendency to engage in risky behavior is correlated with genetic variants in the area of the genes encoding dopamine receptors. Therefore, the aim of this study is to determine whether there is a relationship between personality traits and genetic variants in the area of the DRD2 dopamine receptor gene in MMA athletes. The participants consisted of 85 mixed martial arts (MMA) athletes and 284 healthy, non-MMA male participants. Their personality traits were measured using the Revised Temperament and Character Inventory. Blood was collected for genetic assays and all samples were genotyped using the real-time PCR method. We observed a statistically significant effect of a complex factor of the DRD2 rs1799732 genotype on MMA participants’ control and reward dependence. Engaging in high-risk sport may be associated with several personality characteristics. The DRD2 rs1799732 polymorphism may be associated with reduced harm avoidance in martial arts athletes, thereby modulating athletes’ predisposition to participate in high-risk sport. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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18 pages, 504 KiB  
Article
Total Genotype Score Modelling of Polygenic Endurance-Power Profiles in Lithuanian Elite Athletes
by Erinija Pranckeviciene, Valentina Gineviciene, Audrone Jakaitiene, Laimonas Januska and Algirdas Utkus
Genes 2021, 12(7), 1067; https://doi.org/10.3390/genes12071067 - 13 Jul 2021
Cited by 9 | Viewed by 3120
Abstract
Total genotype score (TGS) reflects additive effect of genotypes on predicting a complex trait such as athletic performance. Scores assigned to genotypes in the TGS should represent an extent of the genotype’s predisposition to the trait. Then, combination of genotypes highly ranks those [...] Read more.
Total genotype score (TGS) reflects additive effect of genotypes on predicting a complex trait such as athletic performance. Scores assigned to genotypes in the TGS should represent an extent of the genotype’s predisposition to the trait. Then, combination of genotypes highly ranks those individuals, who have a trait expressed. Usually, the genotypes are scored by the evidence of a genotype–phenotype relationship published in scientific studies. The scores can be revised computationally using genotype data of athletes, if available. From the available genotype data of 180 Lithuanian elite athletes we created an endurance-mixed-power performance TGS profile based on known ACE rs1799752, ACTN3 rs1815739, and AMPD1 rs17602729, and an emerging MB rs7293 gene markers. We analysed an ability of this TGS profile to stratify athletes according to the sport category that they practice. Logistic regression classifiers were trained to compute the genotype scores that represented the endurance versus power traits in the group of analysed athletes more accurately. We observed differences in TGS distributions in female and male group of athletes. The genotypes with possibly different effects on the athletic performance traits in females and males were described. Our data-driven analysis and TGS modelling tools are freely available to practitioners. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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9 pages, 256 KiB  
Article
Interactions between Gene Variants within the COL1A1 and COL5A1 Genes and Musculoskeletal Injuries in Physically Active Caucasian
by Katarzyna Leźnicka, Ewelina Żyżniewska-Banaszak, Magdalena Gębska, Anna Machoy-Mokrzyńska, Anna Krajewska-Pędzik, Agnieszka Maciejewska-Skrendo and Agata Leońska-Duniec
Genes 2021, 12(7), 1056; https://doi.org/10.3390/genes12071056 - 9 Jul 2021
Cited by 8 | Viewed by 2610
Abstract
The COL1A1 and COL5A1 variants have been associated with the risk of musculoskeletal injuries. Therefore, the main aim of the study was to investigate the association between three polymorphisms within two genes (rs1800012 in COL1A1, as well as rs12722 and rs13946 in [...] Read more.
The COL1A1 and COL5A1 variants have been associated with the risk of musculoskeletal injuries. Therefore, the main aim of the study was to investigate the association between three polymorphisms within two genes (rs1800012 in COL1A1, as well as rs12722 and rs13946 in COL5A1) and the reported, yet rarely described in the literature, injuries of the joint and muscle area in a physically active Caucasian population. Polish students (n = 114) were recruited and divided into the following two groups: students with (n = 53) and without (n = 61) injures. Genotyping was carried out using real-time PCR. The results obtained revealed a statistically significant association between rs1800012 COL1A1 and injury under an overdominant model. Specifically, when adjusted for age and sex, the GT heterozygotes had a 2.2 times higher chance of being injured compared with both homozygotes (TT and GG, 95% CI 0.59–5.07, p = 0.040). However, no significant interaction between the COL5A1 variants, either individually or in haplotype combination, and susceptibility to injury were found. In addition, the gene–gene interaction analysis did not reveal important relationships with the musculoskeletal injury status. It was demonstrated that rs1800012 COL1A1 may be positively associated with physical activity-related injuries in a Caucasian population. Harboring the specific GT genotype may be linked to a higher risk of being injured. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
9 pages, 252 KiB  
Article
FABP2 Ala54Thr Polymorphism and Post-Training Changes of Body Composition and Biochemical Parameters in Caucasian Women
by Agata Leońska-Duniec, Katarzyna Świtała, Ildus I. Ahmetov, Craig Pickering, Myosotis Massidda, Maciej Buryta, Andrzej Mastalerz and Ewelina Maculewicz
Genes 2021, 12(7), 954; https://doi.org/10.3390/genes12070954 - 22 Jun 2021
Cited by 6 | Viewed by 2551
Abstract
The functional FABP2 Ala54Thr polymorphism (rs1799883) is strongly associated with lipid and carbohydrate metabolism, although the function of its potential modifying effect on training-induced changes in obesity-related parameters is still unknown. The aim of the present study was to investigate the influence of [...] Read more.
The functional FABP2 Ala54Thr polymorphism (rs1799883) is strongly associated with lipid and carbohydrate metabolism, although the function of its potential modifying effect on training-induced changes in obesity-related parameters is still unknown. The aim of the present study was to investigate the influence of the Ala54Thr polymorphism on post-training changes of selected body mass and body composition measurements, as well as with biochemical parameters of energy metabolism. Accordingly, alleles and genotypes distribution in a group of 168 young, nonobese Caucasian women measured for chosen body composition parameters, lipid profile, and glucose levels before and after the completion of a 12-week aerobic training program were studied. Although the obtained results showed changes in body mass, BMI, FM, %FM, FFM, TBW, HDL-C, and glucose levels during the training program, none of the examined parameters changed significantly across the FABP2 genotypes. Instead, we found a main effect of genotype on BMI (p = 0.033), with carriers of the Thr54 allele having a higher BMI during the whole study period compared with the Ala54 carriers. We confirm that the FABP2 Ala54Thr polymorphism may help identify women at risk for overweight and obesity. However, we did not notice evidence of an interaction between physical activity and the Ala54Thr polymorphism on the examined parameters. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
7 pages, 234 KiB  
Article
Rare Variant in the SLC6A2 Encoding a Norepinephrine Transporter Is Associated with Elite Athletic Performance in the Polish Population
by Jakub P. Fichna, Kinga Humińska-Lisowska, Krzysztof Safranow, Jakub G. Adamczyk, Paweł Cięszczyk, Cezary Żekanowski and Mariusz Berdyński
Genes 2021, 12(6), 919; https://doi.org/10.3390/genes12060919 - 15 Jun 2021
Cited by 3 | Viewed by 2352
Abstract
Numerous genetic factors have been shown to influence athletic performance, but the list is far from comprehensive. In this study, we analyzed genetic variants in two genes related to mental abilities, SLC6A2 (rs1805065) and SYNE1 (rs2635438) in a group of 890 athletes [...] Read more.
Numerous genetic factors have been shown to influence athletic performance, but the list is far from comprehensive. In this study, we analyzed genetic variants in two genes related to mental abilities, SLC6A2 (rs1805065) and SYNE1 (rs2635438) in a group of 890 athletes (320 endurance, 265 power, and 305 combat athletes) vs. 1009 sedentary controls. Genotyping of selected SNPs was performed using TaqMan SNP genotyping assays. SLC6A2 codes for norepinephrine transporter, a protein involved in modulating mood, arousal, memory, learning, and pain perception, while SYNE1 encodes protein important for the maintenance of the cerebellum—the part of the brain that coordinates complex body movements. Both SNPs (rs2635438 and rs1805065) showed no statistically significant differences between the frequencies of variants in the athletes and the sedentary controls (athletes vs. control group) or in the athlete subgroups (martial vs. control, endurance vs. control, and power vs. control). The rs1805065 T variant of SLC6A2 was found to be overrepresented in male high-elite martial sports athletes when compared to sedentary controls (OR = 6.56, 95%CI = 1.82–23.59, p = 0.010). This supports the hypothesis that genetic variants potentially affecting brain functioning can influence elite athletic performance and indicate the need for further genetic association studies, as well as functional analyses. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
7 pages, 419 KiB  
Communication
Alpha-Actinin-3 Deficiency Might Affect Recovery from Non-Contact Muscle Injuries: Preliminary Findings in a Top-Level Soccer Team
by Gil Rodas, Víctor Moreno-Pérez, Juan Del Coso, Daniel Florit, Lourdes Osaba and Alejandro Lucia
Genes 2021, 12(5), 769; https://doi.org/10.3390/genes12050769 - 18 May 2021
Cited by 10 | Viewed by 2583
Abstract
There are recent data suggesting an association between the R577X polymorphism (rs1815739) in the gene encoding α-actinin-3 (ACTN3) and the risk of musculoskeletal injuries. The purpose of this study was to analyze the association of rs1815739 with risk of, and recovery [...] Read more.
There are recent data suggesting an association between the R577X polymorphism (rs1815739) in the gene encoding α-actinin-3 (ACTN3) and the risk of musculoskeletal injuries. The purpose of this study was to analyze the association of rs1815739 with risk of, and recovery time from non-contact soft-tissue muscle injuries in professional soccer players. Forty-six (22 male and 24 female) players from a top-level professional soccer team were assessed during five consecutive seasons: the genotype distribution was: RR, 41.3%; RX, 47.8%; and XX, 10.9%. There was a trend towards a higher risk of muscle injury associated with the XX genotype (p = 0.092, with no injury-free XX player during the 5-year study period) and a significant genotype effect for the time needed to return to play (p = 0.044, with the highest value shown for the XX genotype, i.e., 36 ± 26 days, vs. 20 ± 10 and 17 ± 12 days for RR and RX, respectively). In conclusion, the XX genotype might be associated not only with a higher risk of non-contact muscle injuries, but also of recovery time from these conditions. However, more research in larger cohorts is needed to confirm this preliminary hypothesis. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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10 pages, 244 KiB  
Article
Variants in the Myostatin Gene and Physical Performance Phenotype of Elite Athletes
by Valentina Ginevičienė, Audronė Jakaitienė, Erinija Pranckevičienė, Kazys Milašius and Algirdas Utkus
Genes 2021, 12(5), 757; https://doi.org/10.3390/genes12050757 - 17 May 2021
Cited by 4 | Viewed by 3639
Abstract
The MSTN gene is a negative regulator of muscle growth that is attracting attention as a candidate gene for physical performance traits. We hypothesised that variants of MSTN might be associated with the status of elite athlete. We therefore sought to study the [...] Read more.
The MSTN gene is a negative regulator of muscle growth that is attracting attention as a candidate gene for physical performance traits. We hypothesised that variants of MSTN might be associated with the status of elite athlete. We therefore sought to study the potential role of MSTN in the physical performance of athletes by analysing the whole coding sequence of the MSTN gene in a cohort of Lithuanian elite athletes (n = 103) and non-athletes (n = 127). Consequently, two genetic variants were identified: the deletion of one of three adenines in the first intron (c.373+90delA, rs11333758) and a non-synonymous variant in the second exon (c.458A>G, p.Lys(K)153Arg(R), rs1805086). Among all samples, the MSTN rs1805086 Lys(K) allele was the most common form in both groups. Homozygous genotype for the less common Arg(R) allele was identified in only one elite canoe rower, and we could find no direct association between rs1805086 and successful results in elite athletes. Surprisingly, the intronic variant (rs11333758) was abundant among all samples. The main finding was that endurance-oriented athletes had 2.1 greater odds of being MSTN deletion genotype than non-athletes (13.6% vs. 0.8%). The present study confirms the association of the polymorphism rs11333758 with endurance performance status in Lithuanian elite athletes. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
8 pages, 236 KiB  
Article
Association between the FTO A/T Polymorphism and Elite Athlete Status in Caucasian Swimmers
by Piotr Zmijewski and Agata Leońska-Duniec
Genes 2021, 12(5), 715; https://doi.org/10.3390/genes12050715 - 11 May 2021
Cited by 6 | Viewed by 2129
Abstract
The FTO A/T polymorphism (rs9939609) has been strongly associated with body mass-related traits in nonathletic populations, but rarely with elite athletic performance. The aim of the study was to investigate the association between the A/T polymorphism and athlete status in elite swimmers. Polish [...] Read more.
The FTO A/T polymorphism (rs9939609) has been strongly associated with body mass-related traits in nonathletic populations, but rarely with elite athletic performance. The aim of the study was to investigate the association between the A/T polymorphism and athlete status in elite swimmers. Polish swimmers (n = 196) who competed in national and international competition at short- (SDS; 50–200 m; n = 147) and long-distance events (LDS; ≥400 m; n = 49) were recruited. The control group included 379 unrelated, sedentary young participants. The participants were all Caucasians. Genotyping was carried out using real-time PCR. It was found that the chance of being an elite swimmer was lower in carriers of the AT and AA genotype compared with TT homozygotes (1.5 and 2.0 times, respectively). These findings were confirmed in an allelic association; the A allele was less frequent in the swimmers compared with controls (p = 0.004). However, when SDS were compared against LDS, no significant differences were observed in genotypic and allelic distribution. The results of our experiment suggest that the variation within the FTO gene can affect elite athlete status. It was demonstrated that harboring the T allele may be beneficial for achieving success in a sport such as swimming. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)

Review

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20 pages, 381 KiB  
Review
Epigenetic Regulation of Inflammatory Responses in the Context of Physical Activity
by Maciej Tarnowski, Patrycja Kopytko and Katarzyna Piotrowska
Genes 2021, 12(9), 1313; https://doi.org/10.3390/genes12091313 - 25 Aug 2021
Cited by 10 | Viewed by 3153
Abstract
Epigenetic modifications occur in response to environmental changes and play a fundamental role in the regulation of gene expression. PA is found to elicit an inflammatory response, both from the innate and adaptive divisions of the immunological system. The inflammatory reaction is considered [...] Read more.
Epigenetic modifications occur in response to environmental changes and play a fundamental role in the regulation of gene expression. PA is found to elicit an inflammatory response, both from the innate and adaptive divisions of the immunological system. The inflammatory reaction is considered a vital trigger of epigenetic changes that in turn modulate inflammatory actions. The tissue responses to PA involve local and general changes. The epigenetic mechanisms involved include: DNA methylation, histone proteins modification and microRNA. All of them affect genetic expression in an inflammatory milieu in physical exercise depending on the magnitude of physiological stress experienced by the exerciser. PA may evoke acute or chronic biochemical and physiological responses and have a positive or negative immunomodulatory effect. Full article
(This article belongs to the Special Issue Genetics and Genomics in Sport)
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