Sports Medicine, Injuries, and Genetics

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 October 2022) | Viewed by 8349

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
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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

Special Issue Information

Dear Colleagues, 

In the first decade of the 21st century, a disturbing trend was observed related to a significant increase in injuries of the human musculoskeletal system. Therefore, the first decade of the 21st century was announced by WHO as the decade of bone and joint diseases. Undoubtedly, the growing number of injuries is related to the popularization of physical activity. Spontaneous or stimulated by the current trend, taking up the challenge of even amateur physical activity most often does not go hand in hand with basic motor preparation, protecting the joints against the effects of injuries. The increase in the frequency of injuries is also noted in professional sport, where players are subjected to enormous pressure to achieve sports success, which results in exceeding their own physical limitations, even at the cost of possible injuries. Increased frequency of injuries also has its social effects in the form of professional absenteeism, as well as economic effects related to considerable costs of treatment and rehabilitation, and a relatively long period of recovery.

It should be emphasized that when talking about sports medicine, we should expand our thinking beyond the context of orthopedic issues. We should remember that sports medicine deals with all the processes taking place in the human body during physical activity and after exercise. The general goal of sports medicine specialists is to take care of healthy people who regularly practice sports, as well as patients with indications for the implementation of systematic physical activity. Therefore, specialists in the field of sports medicine have to cope with the challenges not only in the field of orthopedics, but also, and perhaps above all, rehabilitation, surgery and cardiology. We must also not forget about the importance of proper nutrition for the functioning of the human body, especially in physically active people. Each of these contexts is related - in one way or another - with genetic aspects. There is evidence that there is a heritability component to athletic performance. Today it is becoming widely accepted that genetic factors have a great influence not only on athletic performance but also on injury susceptibility in individual athletes who are carriers of specified genetic sequence variants. Many variants of genes have been discovered that play a key role in the formation of structural elements that build the human musculoskeletal system - the diversity of such genes may, to some extent, determine the susceptibility to injuries often observed in both professional and amateur sports. Genes influencing the functioning of the cardiovascular system, the differentiation of which determines the fitness and endurance of the athlete's body, have also been described. We also know that the presence of various sequence variants, as well as the diversity of expression regulation or epigenetic modification of various genome fragments, can significantly affect the processes related to the rehabilitation of people suffering from various types of injuries.

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 Sports Medicine, Injuries, and Genetics.

Prof. Dr. Agnieszka Maciejewska-Skrendo
Prof. Dr. Paweł Ciȩszczyk
Guest Editors

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Keywords

  • sports medicine
  • injuries
  • genetic factors
  • risk factors

Published Papers (4 papers)

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Research

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14 pages, 619 KiB  
Article
Lack of Association between (AAT)n Polymorphism of the CNR1 Gene Encoding the Cannabinoid Receptor (CB1) and Patient’s Quality of Life
by Anna Machoy-Mokrzyńska, Monika Rać, Alina Jurewicz, Violetta Dziedziejko, Krzysztof Safranow, Mateusz Kurzawski, Agnieszka Boroń, Arkadiusz Stefaniak, Katarzyna Leźnicka, Andrzej Bohatyrewicz and Monika Białecka
Genes 2022, 13(11), 2046; https://doi.org/10.3390/genes13112046 - 06 Nov 2022
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Abstract
Genetic factors may predispose persons to decreased pain excitability. One of the interesting modulators affecting pain perception may be polymorphisms of the cannabinoid receptor type 1 (CNR1) gene. In this study, we examined the association between three-nucleotide repeats (AAT) polymorphism located [...] Read more.
Genetic factors may predispose persons to decreased pain excitability. One of the interesting modulators affecting pain perception may be polymorphisms of the cannabinoid receptor type 1 (CNR1) gene. In this study, we examined the association between three-nucleotide repeats (AAT) polymorphism located in the 3′UTR non-translational region of CNR1 and the patient’s quality of life after total hip arthroplasty. Our study examined the degree of pain sensation, hip function, and the patient’s performance at defined intervals after elective hip replacement due to degenerative changes. The study included 198 patients (128 women and 70 men). The average age was 67 years. PCR genotyping assay was used to identify the (AAT)n triplet repeat polymorphism in the CNR1 gene. The (AAT)n repeat number was determined by sequencing using a standard sequencing protocol. Our study found no statistically significant association between the degree of pain, hip function, and the change in the degree of disability and the (AAT)n polymorphism in the CNR1 gene, no statistically significant correlations between clinical symptoms, the patient’s age, and the number of AAT repeats, no association between the length of the allele and the degree of pain, hip function, and the change in disability. Full article
(This article belongs to the Special Issue Sports Medicine, Injuries, and Genetics)
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10 pages, 274 KiB  
Article
No Association between Genetic Variants of the COMT and OPRM1 Genes and Pain Perception among Patients Undergoing Total Hip or Knee Arthroplasty for Primary Osteoarthritis
by Alina Jurewicz, Andrzej Bohatyrewicz, Maciej Pawlak, Maciej Tarnowski, Mateusz Kurzawski, Anna Machoy-Mokrzyńska, Mariusz Kaczmarczyk, Anna Lubkowska, Monika Chudecka, Agnieszka Maciejewska-Skrendo and Katarzyna Leźnicka
Genes 2022, 13(10), 1775; https://doi.org/10.3390/genes13101775 - 01 Oct 2022
Cited by 3 | Viewed by 1649
Abstract
Each year approximately 1 million total hip replacements are performed worldwide. The most common indications to choose this procedure are rest pain and pain after activity as well as functional limitations influencing daily activities. Experimental pain is highly variable by individuals, which is [...] Read more.
Each year approximately 1 million total hip replacements are performed worldwide. The most common indications to choose this procedure are rest pain and pain after activity as well as functional limitations influencing daily activities. Experimental pain is highly variable by individuals, which is partly due to genetics. The aim of the study was to investigate a possible association of the catechol-O-methyltransferase (COMT) and μ-opioid receptor (OPRM1) genotypes with pain perception in patients undergoing total hip replacement and total knee replacement taking into account aspects such as age, sex and diabetes. The study included 207 patients (119 females, 88 males, median age 65 years, range 33–77) that qualified for surgical treatment (total hip replacement and knee arthroplasty) due to osteoarthritis. Pain sensitivity measurement was performed using a standard algometer. The genomic DNA was extracted from the buccal cells.. Single locus analysis was conducted using a general linear model. In the study group, we did not find statistically significant genetic associations between variants of COMT and OPRM1 and pain thresholds/pain tolerance. The analysis of subjective pain perception using the visual analog scale did not show any relationship between the OPRM1 rs1799971A>G variant and COMT rs4680, rs4633, rs4818 and rs6269. Full article
(This article belongs to the Special Issue Sports Medicine, Injuries, and Genetics)
9 pages, 282 KiB  
Article
Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes
by Magdalena Dzitkowska-Zabielska, Aleksandra Bojarczuk, Małgorzata Borczyk, Marcin Piechota, Michał Korostyński, Jakub Grzegorz Adamczyk, Grzegorz Trybek, Myosotis Massidda and Paweł Cięszczyk
Genes 2022, 13(5), 870; https://doi.org/10.3390/genes13050870 - 12 May 2022
Cited by 1 | Viewed by 1759
Abstract
Background: To date, nearly 300 genetic markers were linked to endurance and power/strength traits. The current study aimed to compare genotype distributions and allele frequencies of the common polymorphisms: MCT1 rs1049434, NRF2 rs12594956, MYBPC3 rs1052373 and HFE rs1799945 in Polish elite athletes versus [...] Read more.
Background: To date, nearly 300 genetic markers were linked to endurance and power/strength traits. The current study aimed to compare genotype distributions and allele frequencies of the common polymorphisms: MCT1 rs1049434, NRF2 rs12594956, MYBPC3 rs1052373 and HFE rs1799945 in Polish elite athletes versus nonathletes. Methods: The study involved 101 male elite Polish athletes and 41 healthy individuals from the Polish population as a control group. SNP data were extracted from whole-genome sequencing (WGS) performed using the following parameters: paired reads of 150 bps, at least 90 Gb of data per sample with 300 M reads and 30× mean coverage. Results: All the analyzed polymorphisms conformed to Hardy–Weinberg equilibrium (HWE) in athletes and the control group, except the MCT1 rs1049434, where allele T was over-represented in the elite trainers’ group. No significant between-group differences were found for analyzed polymorphisms. Conclusions: The MCT1 rs1049434 transmission distortion might be characteristic of Polish athletes and the effect of strict inclusion criteria. This result and the lack of statistically significant changes in the frequency of other polymorphisms between the groups might result from the small group size. Full article
(This article belongs to the Special Issue Sports Medicine, Injuries, and Genetics)

Review

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39 pages, 2813 KiB  
Review
Epigenetic Alterations in Sports-Related Injuries
by Maciej Tarnowski, Patrycja Tomasiak, Marta Tkacz, Katarzyna Zgutka and Katarzyna Piotrowska
Genes 2022, 13(8), 1471; https://doi.org/10.3390/genes13081471 - 17 Aug 2022
Cited by 5 | Viewed by 3295
Abstract
It is a well-known fact that physical activity benefits people of all age groups. However, highly intensive training, maladaptation, improper equipment, and lack of sufficient rest lead to contusions and sports-related injuries. From the perspectives of sports professionals and those performing regular–amateur sports [...] Read more.
It is a well-known fact that physical activity benefits people of all age groups. However, highly intensive training, maladaptation, improper equipment, and lack of sufficient rest lead to contusions and sports-related injuries. From the perspectives of sports professionals and those performing regular–amateur sports activities, it is important to maintain proper levels of training, without encountering frequent injuries. The bodily responses to physical stress and intensive physical activity are detected on many levels. Epigenetic modifications, including DNA methylation, histone protein methylation, acetylation, and miRNA expression occur in response to environmental changes and play fundamental roles in the regulation of cellular activities. In the current review, we summarise the available knowledge on epigenetic alterations present in tissues and organs (e.g., muscles, the brain, tendons, and bones) as a consequence of sports-related injuries. Epigenetic mechanism observations have the potential to become useful tools in sports medicine, as predictors of approaching pathophysiological alterations and injury biomarkers that have already taken place. Full article
(This article belongs to the Special Issue Sports Medicine, Injuries, and Genetics)
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