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Sports genetics

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https://www.readbyqxmd.com/read/29143655/consent-ethics-and-genetic-biobanks-the-case-of-the-athlome-project
#1
REVIEW
Rachel Thompson, Michael J McNamee
This article provides a critical overview of the ethics and governance of genetic biobank research, using the Athlome Consortium as a large scale instance of collaborative sports genetic biobanking. We present a traditional model of written informed consent for the acquisition, storage, sharing and analysis of genetic data and articulate the challenges to it from new research practices such as genetic biobanking. We then articulate six possible alternative consent models: verbal consent, blanket consent, broad consent, meta consent, dynamic consent and waived consent...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29143596/genetic-testing-for-exercise-prescription-and-injury-prevention-ais-athlome-consortium-fims-joint-statement
#2
REVIEW
Nicole Vlahovich, David C Hughes, Lyn R Griffiths, Guan Wang, Yannis P Pitsiladis, Fabio Pigozzi, Nobert Bachl, Nir Eynon
BACKGROUND: There has been considerable growth in basic knowledge and understanding of how genes are influencing response to exercise training and predisposition to injuries and chronic diseases. On the basis of this knowledge, clinical genetic tests may in the future allow the personalisation and optimisation of physical activity, thus providing an avenue for increased efficiency of exercise prescription for health and disease. RESULTS: This review provides an overview of the current status of genetic testing for the purposes of exercise prescription and injury prevention...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29143595/why-nature-prevails-over-nurture-in-the-making-of-the-elite-athlete
#3
Evelina Georgiades, Vassilis Klissouras, Jamie Baulch, Guan Wang, Yannis Pitsiladis
While the influence of nature (genes) and nurture (environment) on elite sporting performance remains difficult to precisely determine, the dismissal of either as a contributing factor to performance is unwarranted. It is accepted that a complex interaction of a combination of innumerable factors may mold a talented athlete into a champion. The prevailing view today is that understanding elite human performance will require the deciphering of two major sources of individual differences, genes and the environment...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29127265/mortality-and-health-related-habits-in-900-finnish-former-elite-athletes-and-their-brothers
#4
Titta Katariina Kontro, Seppo Sarna, Jaakko Kaprio, Urho M Kujala
BACKGROUND: There is conflicting evidence on the associations between participation in vigorous sports, health habits, familial factors and subsequent mortality. We investigated all-cause mortality and health-related behaviour among former elite athletes and their brothers. METHODS: The mortality of Finnish male former elite athletes, who had represented Finland between 1920 and 1965 (n=900) and their age-matched brothers (n=900), was followed from the time when athlete started an elite athlete career until 31 December 2015...
November 10, 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/29106819/catfish-biology-and-farming
#5
Rex A Dunham, Ahmed Elaswad
This article summarizes the biology and culture of ictalurid catfish, an important commercial, aquaculture, and sport fish family in the United States. The history of the propagation as well as spawning of common catfish species in this family is reviewed, with special emphasis on channel catfish and its hybridization with blue catfish. The importance of the channel catfish female × blue catfish male hybrid, including current and future methods of hybrid catfish production, and the potential role it plays in the recovery of the US catfish industry are discussed...
November 6, 2017: Annual Review of Animal Biosciences
https://www.readbyqxmd.com/read/29051027/the-conception-of-the-abcd-study-from-substance-use-to-a-broad-nih-collaboration
#6
REVIEW
Nora D Volkow, George F Koob, Robert T Croyle, Diana W Bianchi, Joshua A Gordon, Walter J Koroshetz, Eliseo J Pérez-Stable, William T Riley, Michele H Bloch, Kevin Conway, Bethany G Deesds, Gayathri J Dowling, Steven Grant, Katia D Howlett, John A Matochik, Glen D Morgan, Margaret M Murray, Antonio Noronha, Catherine Y Spong, Eric M Wargo, Kenneth R Warren, Susan R B Weiss
Adolescence is a time of dramatic changes in brain structure and function, and the adolescent brain is highly susceptible to being altered by experiences like substance use. However, there is much we have yet to learn about how these experiences influence brain development, how they promote or interfere with later health outcomes, or even what healthy brain development looks like. A large longitudinal study beginning in early adolescence could help us understand the normal variability in adolescent brain and cognitive development and tease apart the many factors that influence it...
October 10, 2017: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/29045058/loop-mediated-isothermal-amplification-lamp-as-an-alternative-to-pcr-a-rapid-on-site-detection-of-gene-doping
#7
Olivier Salamin, Tiia Kuuranne, Martial Saugy, Nicolas Leuenberger
Innovation in medical research has been diverted at multiple occasions to enhance human performance. The predicted great progress in gene therapy has raised some concerns regarding its misuse in the world of sports (gene doping) for several years now. Even though there is no evidence that gene doping has ever been used in sports, the continuous improvement of gene therapy techniques increases the likelihood of abuse. Therefore, since 2004, efforts have been invested by the anti-doping community and WADA for the development of detection methods...
October 17, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/29043022/using-genetic-tools-to-estimate-the-prevalence-of-non-native-red-deer-cervus-elaphus-in-a-western-european-population
#8
Alain C Frantz, Frank E Zachos, Sabine Bertouille, Marie-Christine Eloy, Marc Colyn, Marie-Christine Flamand
Game species like the red deer have been subjected to anthropogenic impacts for centuries. Translocations are often carried out-sometimes illegally-not only for sporting purposes, but also to increase trophy quality, reduce inbreeding, or mitigate bottlenecks after excessive persecution. Apart from the blurring of large-scale genetic structure, translocations without adequate quarantine measure risk introducing pathogens into potentially immunologically naïve populations. It is therefore important to understand the frequency of clandestine translocations...
October 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/29022255/acute-and-chronic-response-to-exercise-in-athletes-the-supernormal-heart
#9
Antonello D'Andrea, Tiziana Formisano, Lucia Riegler, Raffaella Scarafile, Raffaella America, Francesca Martone, Marco di Maio, Maria Giovanna Russo, Eduardo Bossone, Maurizio Galderisi, Raffaele Calabrò
During last decades, most studies have examined the exercise-induced remodeling defined as "athlete's heart". During exercise, there is an increased cardiac output that causes morphological, functional, and electrical modification of the cardiac chambers. The cardiac remodeling depends also on the type of training, age, sex, ethnicity, genetic factors, and body size. The two main categories of exercise, endurance and strength, determine different effects on the cardiac remodeling. Even if most sport comprise both strength and endurance exercise, determining different scenarios of cardiac adaptation to the exercise...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28990148/athletes-and-the-aorta-normal-adaptations-and-the-diagnosis-and-management-of-pathology
#10
REVIEW
J Stephen Hedley, Dermot Phelan
Over a hundred years ago, physicians first recognized that participation in regular, vigorous training resulted in enlargement of the heart. Since that time, the term "athlete's heart" has entered the medical lexicon as a global expression encompassing the electrical, functional, and morphological adaptations that develop in response to physical training. Exercise-induced adaptations of the aorta, which is also exposed to large hemodynamic stresses during prolonged endurance exercise or resistance training, are less well recognized...
October 9, 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28987069/is-zebrafish-danio-rerio-a-tool-for-human-like-metabolism-study
#11
Carina de Souza Anselmo, Vinicius Figueiredo Sardela, Bernardo Fonseca Matias, Amanda Reis de Carvalho, Valeria Pereira de Sousa, Henrique Marcelo Gualberto Pereira, Francisco Radler de Aquino Neto
One of the greatest challenges in anti-doping science is the large number of substances available and the difficulty in finding the best analytical targets for detecting their misuse. Therefore, metabolism studies involving prohibited substances are fundamental. However, metabolism studies in humans could face an important ethical bottleneck, especially for non-approved substances. An emerging model for metabolism assessment is the zebrafish, due to its genetic similarities with humans. In the present study, the ability of adult zebrafish to produce metabolites of sibutramine and stanozolol, substances with well-known metabolism that are widely used as doping agents in sports, was evaluated...
October 7, 2017: Drug Testing and Analysis
https://www.readbyqxmd.com/read/28957384/two-genetic-loci-associated-with-ankle-injury
#12
Stuart K Kim, John P Kleimeyer, Marwa A Ahmed, Andrew L Avins, Michael Fredericson, Jason L Dragoo, John P A Ioannidis
Ankle injuries, including sprains, strains and other joint derangements and instability, are common, especially for athletes involved in indoor court or jumping sports. Identifying genetic loci associated with these ankle injuries could shed light on their etiologies. A genome-wide association screen was performed using publicly available data from the Research Program in Genes, Environment and Health (RPGEH) including 1,694 cases of ankle injury and 97,646 controls. An indel (chr21:47156779:D) that lies close to a collagen gene, COL18A1, showed an association with ankle injury at genome-wide significance (p = 3...
2017: PloS One
https://www.readbyqxmd.com/read/28918262/circuit-changes-in-motor-cortex-during-motor-skill-learning
#13
Andrew E Papale, Bryan M Hooks
Motor cortex is important for motor skill learning, particularly the dexterous skills necessary for our favorite sports and careers. We are especially interested in understanding how plasticity in motor cortex contributes to skill learning. Although human studies have been helpful in understanding the importance of motor cortex in learning skilled tasks, animal models are necessary for achieving a detailed understanding of the circuitry underlying these behaviors and the changes that occur during training. We review data from these models to try to identify sites of plasticity in motor cortex, focusing on rodents asa model system...
September 14, 2017: Neuroscience
https://www.readbyqxmd.com/read/28898135/understanding-adolescent-low-back-pain-from-a-multidimensional-perspective-implications-for-management
#14
Peter O'Sullivan, Anne Smith, Darren Beales, Leon Straker
Synopsis Low back pain (LBP) is the leading cause of disability worldwide. It often begins in adolescence, setting a course for later in life. We have tracked the course of LBP in the Raine Study cohort from the age of 14 years into early adulthood. Our work has found that LBP is already prevalent in individuals at 14 years of age and increases throughout adolescence and into early adulthood. It is often comorbid with other musculoskeletal pain. For some adolescents, LBP has little impact; for others, its impact includes care seeking, taking medication, taking time off from school and work, as well as modifying physical and functional activity...
October 2017: Journal of Orthopaedic and Sports Physical Therapy
https://www.readbyqxmd.com/read/28888475/promoter-methylation-status-of-the-timp2-and-adamts4-genes-and-patellar-tendinopathy
#15
Louis Y El Khoury, Rebecca Rickaby, Tom Samiric, Stuart M Raleigh
OBJECTIVES: Patellar tendinopathy (PT) is a debilitating and prevalent condition that tends to affect those who are physically active or engaged in jumping sports. Although tendinopathies are known to have a genetic basis, the role of DNA methylation as an epigenetic factor and risk determinant for human PT has never been described. We sought to determine whether differences existed between the methylation profiles of both the TIMP2 and ADAMTS4 gene promoter sequences in a cohort of males having undergone surgery for patellar tendinopathy compared to controls...
September 1, 2017: Journal of Science and Medicine in Sport
https://www.readbyqxmd.com/read/28871847/single-nucleotide-polymorphisms-in-carnosinase-genes-cndp1-and-cndp2-are-associated-with-power-athletic-status
#16
João Paulo Limongi França Guilherme, Antonio Herbert Lancha Junior
Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and non-athletes...
September 5, 2017: International Journal of Sport Nutrition and Exercise Metabolism
https://www.readbyqxmd.com/read/28832170/-novel-findings-in-follicular-lymphoma-pathogenesis-and-the-concepts-of-targeted-therapy
#17
J Deván, K Musilová, A Janíková, M Mráz
The molecular pathogenesis of follicular lymphoma (FL) was partially revealed by the discovery of BCL2 translocations to the region encoding the immunoglobulin heavy chain, which accompany the vast majority of cases. This aberration leads to the ectopic and constitutive expression of anti-apoptotic BCL2 protein in B-cells. Nevertheless, the aberration alone is not sufficient for FL development, which suggests necessity of further genetic aberrations acquisition for neoplastic transformation to FL. Their discovery has been enabled by recent progress in the field of massive parallel sequencing (next generation sequencing), which revealed high number of genetic aberrations connected with onset and progression of FL...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28828083/increased-prevalence-of-the-il-6-174c-genetic-polymorphism-in-long-distance-swimmers
#18
Sigal Ben-Zaken, Yoav Meckel, Dan Nemet, Eias Kassem, Alon Eliakim
The IL-6 -174G/C single nucleotide polymorphism (SNP) functionally affects IL-6 activity, with the G-allele associated with increased IL-6 levels. The C-allele was found to be associated with exercise-induced skeletal muscle damage. The aim of the present study was to examine the association between the IL-6 -174G/C polymorphism and athletic performance among elite swimmers and runners. The study sample included 180 track and field athletes and 80 swimmers. Track and field athletes were assigned to three sub-groups: long-distance runners, middle-distance runners and short-distance runners...
September 2017: Journal of Human Kinetics
https://www.readbyqxmd.com/read/28813336/searching-for-the-elusive-gift-advances-in-talent-identification-in-sport
#19
REVIEW
David L Mann, Nima Dehghansai, Joseph Baker
The incentives for sport organizations to identify talented athletes from a young age continue to grow, yet effective talent identification remains a challenging task. This opinion paper examines recent advances in talent identification, focusing in particular on the emergence of new approaches that may offer promise to identify talent (e.g., small-sided games, genetic testing, and advanced statistical analyses). We appraise new multi-disciplinary and large-scale population studies of talent identification, provide a consideration of the most recent psychological predictors of performance, examine the emergence of new approaches that strive to diminish biases in talent identification, and look at the rise in interest in talent identification in Paralympic sport...
August 2017: Current Opinion in Psychology
https://www.readbyqxmd.com/read/28745464/elite-athletes-and-pubertal-delay
#20
Karina Kapczuk
Intensive physical training and participation in competitive sports during childhood and early adolescence may affect athletes' pubertal development. On the other hand, pubertal timing, early or late, may impact on an athlete selection for a particular sport. Genetic predisposition, training load, nutritional status and psychological stress determine athletes' pubertal timing. Athletes that practice esthetic sports, especially gymnasts, are predisposed to a delay in pubertal development. The growing evidence indicates that energy deficiency, not a systemic training per se, plays a crucial role in the pathogenesis of functional hypothalamic hypogonadism in female athletes...
October 2017: Minerva Pediatrica
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