Genetics and the Elite Athlete: Our Understanding in 2020

John, Rakesh; Dhillon, Mandeep Singh; Dhillon, Sidak

doi:10.1007/s43465-020-00056-z

Cited by 16 publications

(13 citation statements)

References 69 publications

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“…Gene doping refers to the non-therapeutic use of gene therapy by healthy athletes to improve physical performance in sporting competition. Gene doping could have dangerous and even fatal outcomes, as the knowledge of gene therapy is still in its infancy [ 72 ]. Through genetic modification, exogenous DNA (or RNA) sequences are inserted into specific tissues to alter gene activity and protein expression.…”

Section: Sports Genomics: Actuality and Prospectsmentioning

confidence: 99%

“…Table 1. Genes with the potential to enhance athletic performance and their potential adverse health effects [24,71,72], and information about physiological functions from The Human Gene Database (https://www.genecards.org/, accessed on 22 January 2022). The current strategy to screen for gene doping involves the direct detection of cDNA sequences, and anti-doping laboratories must permanently incorporate new detection techniques in order to maintain a harmonized approach to detecting doping substances and methods on the worldwide scale [71].…”

Section: New Genetic Technologies and Gene Doping In Sportsmentioning

confidence: 99%

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Perspectives in Sports Genomics

et al. 2022

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Human athletic performance is a complex phenotype influenced by environmental and genetic factors, with most exercise-related traits being polygenic in nature. The aim of this article is to outline some of the challenge faced by sports genetics as this relatively new field moves forward. This review summarizes recent advances in sports science and discusses the impact of the genome, epigenome and other omics (such as proteomics and metabolomics) on athletic performance. The article also highlights the current status of gene doping and examines the possibility of applying genetic knowledge to predict athletes’ injury risk and to prevent the rare but alarming occurrence of sudden deaths during sporting events. Future research in large cohorts of athletes has the potential to detect new genetic variants and to confirm the previously identified DNA variants believed to explain the natural predisposition of some individuals to certain athletic abilities and health benefits. It is hoped that this article will be useful to sports scientists who seek a greater understanding of how genetics influences exercise science and how genomic and other multi-omics approaches might support performance analysis, coaching, personalizing nutrition, rehabilitation and sports medicine, as well as the potential to develop new rationale for future scientific investigation.

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Section: Sports Genomics: Actuality and Prospectsmentioning

confidence: 99%

Section: New Genetic Technologies and Gene Doping In Sportsmentioning

confidence: 99%

Perspectives in Sports Genomics

et al. 2022

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“…It was found, for example, that the D allele was dominant in speed-strength-oriented athletes, such as sprinters and short-distance swimmers or weightlifters. The probands of the DD genotype responded to physical stress with greater hypertrophic growth of the left heart ventricle (up to 2.7 times) and greater hypertrophic and hyperplastic growth of skeletal muscles compared to the II genotype in response to exercise [ 20 , 21 , 22 ]. Williams et al (2005) found that ACE-mediated activation of angiotensin II and deactivation of bradykinin leads to higher muscle volume, higher muscle strength and a higher proportion of type II muscle fibres [ 23 , 24 ].…”

Section: Introductionmentioning

confidence: 99%

The Effect of Selected Polymorphisms of the ACTN3, ACE, HIF1A and PPARA Genes on the Immediate Supercompensation Training Effect of Elite Slovak Endurance Runners and Football Players

Végh

Reichwalderová

Slaninová

et al. 2022

Genes

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We aimed to evaluate the effect of selected polymorphisms of the ACTN3, ACE, HIF1A and PPARA genes on the immediate supercompensation training effect of elite Slovak endurance runners and football players compared with a sedentary control group. Adaptation effect levels were evaluated by 10 s continuous vertical jump test parameters measured by Optojump. Genetic polymorphisms were determined by PCR and Sanger sequencing. We found significant differences in the effect of PPARA genotypes in the experimental group. C allele genotypes represented an advantage in immediate supercompensation (p < 0.05). We observed a significant combined effect of multiple genes on immediate supercompensation (p < 0.05): the RR genotype of the ACTN3 gene, the ID genotype of the ACE gene, the Pro/Pro genotype of HIF1A, and the GC and GG genotypes of PPARA genes. In the control group, we found a significant effect (p < 0.05) on immediate supercompensation of the II genotype of the ACE gene and the Pro/Ser genotype of the HIF1A gene. We found significant differences in genotype frequency of ACE (p < 0.01) and PPARA (p < 0.001) genes. We confirmed that individual genetic polymorphisms of ACTN3, ACE, HIF1A and PPARA genes have a different effect on the level of immediate supercompensation of the lower limbs depending on the training adaptation of the probands and the combination of genotypes.

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“…Specifically, ACE produces AngII, and ACE2 degrades AngII to Ang1–7. Some previous studies showed that ACE polymorphism, which was defined in detail by the absence or presence of a 287-bp DNA fragment in intron 16 of the ACE gene, was associated with various heart-related and other diseases such as atherosclerosis ( Sayed-Tabatabaei et al, 2003 ), myocardial infarction ( Cambien et al, 1992 ), ischemic stroke ( Sharma, 1998 ), diabetic nephropathy ( Boright et al, 2005 ), hypertension ( Pachocka et al, 2020 ), endurance exercise ( John et al, 2020 ), and cancer ( Raba et al, 2020 ). Recently, ACE inhibitors have been used to treat hypertension with a lower proportion of critical patients and a lower death rate in COVID-19 patients ( Yang et al, 2020 ).…”

Section: Mainmentioning

confidence: 99%

Angiotensin-Converting Enzyme Genotype–Specific Immune Response Contributes to the Susceptibility of COVID-19: A Nested Case–Control Study

Gong

Mei

et al. 2022

Front. Pharmacol.

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Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the cause of coronavirus disease 2019 (COVID-19), which has resulted in a global pandemic.Methodology: We used a two-step polymerase chain reaction to detect the ACE genotype and ELISA kits to detect the cytokine factor. We also used proteomics to identify the immune pathway related to the ACE protein expression.Result: In this study, we found that the angiotensin-converting enzyme (ACE) deletion polymorphism was associated with the susceptibility to COVID-19 in a risk-dependent manner among the Chinese population. D/D genotype distributions were higher in the COVID-19 disease group than in the control group (D/D odds ratio is 3.87 for mild (p value < 0.0001), 2.59 for moderate (p value = 0.0002), and 4.05 for severe symptoms (p value < 0.0001), logic regression analysis. Moreover, genotype-specific cytokine storms and immune responses were found enriched in patients with the ACE deletion polymorphism, suggesting the contribution to the susceptibility to COVID-19. Finally, we identified the immune pathway such as the complement system related to the ACE protein expression of patients by lung and plasma proteomics.Conclusion: Our results demonstrated that it is very important to consider gene polymorphisms in the population to discover a host-based COVID-19 vaccine and drug design for preventive and precision medicine.

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Genetics and the Elite Athlete: Our Understanding in 2020

Cited by 16 publications

References 69 publications

Perspectives in Sports Genomics

Perspectives in Sports Genomics

The Effect of Selected Polymorphisms of the ACTN3, ACE, HIF1A and PPARA Genes on the Immediate Supercompensation Training Effect of Elite Slovak Endurance Runners and Football Players

Angiotensin-Converting Enzyme Genotype–Specific Immune Response Contributes to the Susceptibility of COVID-19: A Nested Case–Control Study

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