Gene Doping and Genomic Science in Sports: Where Are We?

López, Sheila; Meirelles, João Luiz de; Rayol, Vanessa; Poralla, Gabriella; Woldmar, Nicole; Fadel, Bruna; Figueiredo, Mariana; Padilha, Mônica da Costa; Neto, Francisco Radler de Aquino; Pereira, Henrique Marcelo Gualberto; Pizzatti, Luciana

doi:10.4155/bio-2020-0093

Cited by 17 publications

(12 citation statements)

References 70 publications

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“…The growing knowledge about the role of these genes in the improvement of sports performance and the advances in gene therapy make them likely targets for gene doping approaches (López et al 2020 ; Baoutina et al 2007 ). Several strategies are currently used in gene therapy.…”

Section: Introductionmentioning

confidence: 99%

Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing

et al. 2022

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The impact of genetics on physiology and sports performance is one of the most debated research aspects in sports sciences. Nearly 200 genetic polymorphisms have been found to influence sports performance traits, and over 20 polymorphisms may condition the status of the elite athlete. However, with the current evidence, it is certainly too early a stage to determine how to use genotyping as a tool for predicting exercise/sports performance or improving current methods of training. Research on this topic presents methodological limitations such as the lack of measurement of valid exercise performance phenotypes that make the study results difficult to interpret. Additionally, many studies present an insufficient cohort of athletes, or their classification as elite is dubious, which may introduce expectancy effects. Finally, the assessment of a progressively higher number of polymorphisms in the studies and the introduction of new analysis tools, such as the total genotype score (TGS) and genome-wide association studies (GWAS), have produced a considerable advance in the power of the analyses and a change from the study of single variants to determine pathways and systems associated with performance. The purpose of the present study was to comprehensively review evidence on the impact of genetics on endurance- and power-based exercise performance to clearly determine the potential utility of genotyping for detecting sports talent, enhancing training, or preventing exercise-related injuries, and to present an overview of recent research that has attempted to correct the methodological issues found in previous investigations.

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Section: Introductionmentioning

confidence: 99%

Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing

et al. 2022

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“…Among the target genes with potential interest for performance in sport, the most likely to be used for gene doping are the ones coding for proteins directly implicated in oxygen transfer and muscle growth, the foremost examples being the production of erythropoietin (EPO), growth hormone (GH), and insulin-like growth factor I (IGF-1). 2 To be transferred into cells, the gene must first be packaged in a carrying vector: multiple options exist with viral/nonviral vectors for short or prolonged expression, preferential targeting of one organ or another, and so on. The backbone and sequence of the vector will vary accordingly.…”

Section: Introductionmentioning

confidence: 99%

EPO transgene detection in dried blood spots for antidoping application

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et al. 2021

Drug Testing and Analysis

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The modification of gene expression to treat diseases is a field of research with exponential growth. As doping in sport closely follows emerging therapies, a surveillance of the modification of gene expression to enhance performance is needed. The gene coding for erythropoietin (EPO) is one target of interest. Since 2010, several protocols have been proposed to identify EPO gene doping by focusing on the presence in blood of a transgene that differ in size from the endogenous gene sequence, normally found in the human DNA. In this work, our aim was to validate an easily applicable method for EPO gene doping detection in dried blood spots (DBS). We evaluated the detection of EPO transgene in 20-μl DBS after the spike of a plasmid carrying the EPO transgene in whole blood. Three different DBS were compared: Nucleic-Card™, Whatman ® 903, and the volumetric 20-μl VAMS™. Detection was performed with real-time polymerase chain reaction (PCR) and validated with two Taqman assays (one commercial and one custom) specific for the EPO transgene. The initial testing procedure could be done using one assay (custom) and the confirmation using the second one (commercial Taqman) with a final check of the size of the PCR product. Starting from 20-μl dried blood, 1000 copies of EPO transgene could efficiently be detected with the three types of DBS, VAMS showing a slightly better sensitivity. No loss of sensitivity was observed after 1-month storage of DBS at room temperature. This method could be applied to DBS collected during doping controls and allows reanalysis.

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“…The possible use of newer technologies including CRISPR gene editing has a multitude of unknown physiologic and ethical risks [101]. These include potentially inducing pathologic genetic modifications or unexpected metabolic and hormonal responses to therapy.…”

Section: Gene Dopingmentioning

confidence: 99%

Performance‐enhancing drugs and the Olympics

et al. 2022

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The rules of fair play in sport generally prohibit the use of performance-enhancing drugs (PEDs). The World Anti-Doping Agency (WADA) oversees global antidoping regulations and testing for elite athletes participating in Olympic sports. Efforts to enforce antidoping policies are complicated by the diverse and evolving compounds and strategies employed by athletes to gain a competitive edge. Now between the uniquely proximate 2021 Tokyo and 2022 Beijing Olympic Games, we discuss WADA's efforts to prevent PED use during the modern Olympic Games. Then, we review the major PED classes with a focus on pathophysiology, complexities of antidoping testing, and relevant toxicities. Providers from diverse practice environments are likely to care for patients using PEDs for a variety of reasons and levels of sport; these providers should be aware of common PED classes and their risks.

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Gene Doping and Genomic Science in Sports: Where Are We?

Cited by 17 publications

References 70 publications

Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing

Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing

EPO transgene detection in dried blood spots for antidoping application

Performance‐enhancing drugs and the Olympics

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