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Athletic performance, gene

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https://www.readbyqxmd.com/read/29228018/genome-wide-association-study-identifies-a-locus-associated-with-rotator-cuff-injury
#1
Thomas R Roos, Andrew K Roos, Andrew L Avins, Marwa A Ahmed, John P Kleimeyer, Michael Fredericson, John P A Ioannidis, Jason L Dragoo, Stuart K Kim
Rotator cuff tears are common, especially in the fifth and sixth decades of life, but can also occur in the competitive athlete. Genetic differences may contribute to overall injury risk. Identifying genetic loci associated with rotator cuff injury could shed light on the etiology of this injury. We performed a genome-wide association screen using publically available data from the Research Program in Genes, Environment and Health including 8,357 cases of rotator cuff injury and 94,622 controls. We found rs71404070 to show a genome-wide significant association with rotator cuff injury with p = 2...
2017: PloS One
https://www.readbyqxmd.com/read/29143667/validation-of-whole-blood-transcriptome-signature-during-microdose-recombinant-human-erythropoietin-rhuepo-administration
#2
Guan Wang, Jérôme Durussel, Jonathan Shurlock, Martin Mooses, Noriyuki Fuku, Georgie Bruinvels, Charles Pedlar, Richard Burden, Andrew Murray, Brendan Yee, Anne Keenan, John D McClure, Pierre-Edouard Sottas, Yannis P Pitsiladis
BACKGROUND: Recombinant human erythropoietin (rHuEpo) can improve human performance and is therefore frequently abused by athletes. As a result, the World Anti-Doping Agency (WADA) introduced the Athlete Biological Passport (ABP) as an indirect method to detect blood doping. Despite this progress, challenges remain to detect blood manipulations such as the use of microdoses of rHuEpo. METHODS: Forty-five whole-blood transcriptional markers of rHuEpo previously derived from a high-dose rHuEpo administration trial were used to assess whether microdoses of rHuEpo could be detected in 14 trained subjects and whether these markers may be confounded by exercise (n = 14 trained subjects) and altitude training (n = 21 elite runners and n = 4 elite rowers, respectively)...
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/29131365/gut-microbiota-and-body-composition-in-anorexia-nervosa-inpatients-in-comparison-to-athletes-overweight-obese-and-normal-weight-controls
#4
Sabrina Mörkl, Sonja Lackner, Wolfram Müller, Gregor Gorkiewicz, Karl Kashofer, Andreas Oberascher, Annamaria Painold, Anna Holl, Peter Holzer, Andreas Meinitzer, Harald Mangge, Sandra Holasek
OBJECTIVES: Anorexia nervosa (AN) is a heterogeneous eating disorder associated with alterations of body structure and the gut microbiome. We aimed to investigate the gut microbiota composition of a large female cohort including different BMI groups and activity levels along with body composition parameters. METHOD: 106 female participants were included in this cross-sectional study: AN patients (n = 18), athletes (n = 20), normal weight (n = 26), overweight (n = 22), and obese women (n = 20)...
November 13, 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29068603/differences-in-echocardiography-blood-pressure-stroke-volume-maximal-power-and-profile-of-genes-related-to-cardiac-hypertrophy-in-elite-road-cyclists
#5
Grażyna Janikowska, Aleksandra Żebrowska, Aleksandra Kochańska-Dziurowicz, Urszula Mazurek
BACKGROUND: Regular and moderate exercise is beneficial for improving the efficiency of the heart, but high-intensity physical activity may result in cardiac changes. OBJECTIVES: This study focuses on the identification of the differences in echocardiography and blood variables before exercise, as well as the genes associated with cardiac hypertrophy at rest and in response to graded exercise test. MATERIAL AND METHODS: The study group was made up of 28 road cyclists...
September 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29045058/loop-mediated-isothermal-amplification-lamp-as-an-alternative-to-pcr-a-rapid-on-site-detection-of-gene-doping
#6
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/28993146/exercise-training-reverses-the-negative-effects-of-chronic-l-arginine-supplementation-on-insulin-sensitivity
#7
Rafael Barrera Salgueiro, Frederico Gerlinger-Romero, Lucas Guimarães-Ferreira, Thais de Castro Barbosa, Maria Tereza Nunes
L-Arginine has emerged as an important supplement for athletes and non-athletes in order to improve performance. Arginine has been extensively used as substrate for nitric oxide synthesis, leading to increased vasodilatation and hormonal secretion. However, the chronic consumption of arginine has been shown to impair insulin sensitivity. In the present study, we aimed to evaluate whether chronic arginine supplementation associated with exercise training would have a beneficial impact on insulin sensitivity...
December 15, 2017: Life Sciences
https://www.readbyqxmd.com/read/28985641/a-genetic-marker-associated-with-de-quervain-s-tenosynovitis
#8
Stuart K Kim, Marwa A Ahmed, Andy L Avins, John P A Ioannidis
De Quervain's tenosynovitis is a repetitive strain injury involving synovial inflammation of the tendons of the first extensor compartment of the wrist. It is relatively common in the general population, and is the most common radial-sided tendinopathy seen in athletes. Identifying a genetic marker associated with de Quervain's tenosynovitis could provide a useful tool to help identify those individuals with an increased risk for injury. A genome-wide association screen was performed using publically available data from the Research Program in Genes, Environment and Health (RPGEH) including 4,129 cases and 98,374 controls...
November 2017: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/28983252/evaluation-of-muscle-microrna-expression-in-relation-to-human-peripheral-insulin-sensitivity-a-cross-sectional-study-in-metabolically-distinct-subject-groups
#9
Dennis Dahlmans, Alexandre Houzelle, Johanna A Jörgensen, Esther Phielix, Lucas Lindeboom, Matthijs K C Hesselink, Patrick Schrauwen, Joris Hoeks
In recent years, several microRNAs (miRNAs)-post-transcriptional regulators of gene expression-have been linked to the regulation of peripheral insulin sensitivity. Many of these studies, however, have been conducted in cell or animal models and the few human studies available lack adequate measurements of peripheral insulin sensitivity. In the present study, we examined the expression of 25 miRNAs, putatively involved in (peripheral) insulin sensitivity, in skeletal muscle biopsies from extensively phenotyped human individuals, widely ranging in insulin sensitivity...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28957384/two-genetic-loci-associated-with-ankle-injury
#10
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/28859415/performance-tradeoffs-ontogenetic-conflict-and-multisport-athletes-how-is-an-ironman-triathlete-like-a-frog
#11
Ryan Calsbeek, Debora Goedert
Life-history theory is a cornerstone of modern evolutionary biology that addresses myriad phenomena ranging from demography and population structure to the evolution of aging and senescence. Trade-offs may arise in a number of contexts, from allocation-based (e.g., egg size vs. egg number) to genomic conflicts (e.g., intralocus sexual conflict in which genes that perform well in males perform poorly in females). Here we test for performance tradeoffs in human athletes. We show that in Ironman triathletes, swimming performance trades off with cycling and running performance...
August 1, 2017: Integrative and Comparative Biology
https://www.readbyqxmd.com/read/28854781/molecular-analysis-of-alternative-transcripts-of-equine-axl-receptor-tyrosine-kinase-gene
#12
Jeong-Woong Park, Ki-Duk Song, Nam Young Kim, Jae-Young Choi, Seul A Hong, Jin Hyeog Oh, Si Won Kim, Jeong Hyo Lee, Tae Sub Park, Jin-Kyoo Kim, Jong Geun Kim, Byung-Wook Cho
OBJECTIVE: Since athletic performance is a most importance trait in horses, most research focused on physiological and physical studies of horse athletic abilities. In contrast, the molecular analysis as well as the regulatory pathway studies remain insufficient for evaluation and prediction of horse athletic abilities. In our previous study, we identified AXL receptor tyrosine kinase (AXL) gene which was expressed as alternative spliced isoforms in skeletal muscle during exercise. In the present study, we validated two AXL alternative splicing transcripts (named as AXLa for long form and AXLb for short form) in equine skeletal muscle to gain insight(s) into the role of each alternative transcript during exercise...
October 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28853006/are-the-current-guidelines-on-caffeine-use-in-sport-optimal-for-everyone-inter-individual-variation-in-caffeine-ergogenicity-and-a-move-towards-personalised-sports-nutrition
#13
Craig Pickering, John Kiely
Caffeine use is widespread in sport, with a strong evidence base demonstrating its ergogenic effect. Based on existing research, current guidelines recommend ingestion of 3-9 mg/kg approximately 60 min prior to exercise. However, the magnitude of performance enhancement following caffeine ingestion differs substantially between individuals, with the spectrum of responses ranging between highly ergogenic to ergolytic. These extensive inter-individual response distinctions are mediated by variation in individual genotype, environmental factors, and the legacy of prior experiences partially mediated via epigenetic mechanisms...
August 29, 2017: Sports Medicine
https://www.readbyqxmd.com/read/28843747/arrhythmogenic-right-ventricular-cardiomyopathy-arvc-in-a-young-female-athlete-at-36-weeks-gestation-a-case-report
#14
Hae Yoon Grace Choung, Monika Vyas, Daniel Jacoby, Brian West
A 26year old east African professional athlete presented to the obstetric clinic for a routine visit at 36 weeks gestation. She had a history of Right Ventricular Outflow Tract - Ventricular Tachycardia (RVOT-VT) with an episode of cardiac arrest in the past, and had been treated with ablation 4 years earlier. Her current visit was uneventful, her pregnancy progressing normally. Following the visit she went to a local restaurant where she suffered a cardiac arrest that was unresponsive to therapy. Chest compressions were continued from the time of her collapse until an emergency caesarian section was performed, delivering a healthy female infant...
October 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28817413/actn3-r577x-polymorphism-is-associated-with-the-incidence-and-severity-of-injuries-in-professional-football-players
#15
Massidda Myosotis, Voisin Sarah, Culigioni Claudia, Piras Francesco, Cugia Paolo, Yan Xu, Eynon Nir, Carla M Calò
OBJECTIVE: The ACTN3 R577X gene variant results in the absence of the α-actinin-3 protein in ∼18% of humans worldwide and has been associated with athletic performance and increased susceptibility to eccentric muscle damage. The aim of this study was to investigate the association between ACTN3 R577X variant and indirect muscle disorders/injuries in professional football players. DESIGN: A case-control, genotype-phenotype association study. INTERVENTION: Two hundred fifty-seven male professional Italian football players (from Serie A, Primavera, Allievi, and Giovanissimi; age = 21...
August 16, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28759732/therapeutic-effects-of-doxycycline-on-the-quality-of-repaired-and-unrepaired-achilles-tendons
#16
Quynhhoa T Nguyen, Jolanta B Norelli, Adam Graver, Charles Ekstein, Johnathan Schwartz, Farzana Chowdhury, Mark C Drakos, Daniel A Grande, Nadeen O Chahine
BACKGROUND: Achilles tendon tears are devastating injuries, especially to athletes. Elevated matrix metalloproteinase (MMP) activity after a tendon injury has been associated with deterioration of the collagen network and can be inhibited with doxycycline (Doxy). HYPOTHESIS: Daily oral administration of Doxy will enhance the histological, molecular, and biomechanical quality of transected Achilles tendons. Additionally, suture repair will further enhance the quality of repaired tendons...
October 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28738670/antidoping-program-an-important-factor-in-the-promotion-and-protection-of-the-integrity-of-sport-and-athlete-s-health
#17
Filomena Mazzeo, Vincenzo Monda, Stefania Santamaria, Ersilia Nigro, Anna Valenzano, Ines Villano, Giuseppe Cibelli, Antonietta Messina, Giovanni Messina
Use of performance-enhancing drugs concern not only elite Olympic and Paralympic Games' athletes but also amateur athletes, who are making increasing use of substances and/or methods. Furthermore, a new frontier reached by the doping is the use of genes. World Anti- Doping Agency (WADA), expressly prohibited the participation in competitive sports by the athlete in case of taking banned substances to treat disease in the event that the above assumption implies an excessive improvement of performance. This study aims to analyze and show the doping control as an essential part of the anti-doping program to promote and protect the integrity of sport and athlete's health...
July 24, 2017: Journal of Sports Medicine and Physical Fitness
https://www.readbyqxmd.com/read/28721121/does-the-injection-of-platelet-rich-plasma-induce-changes-in-the-gene-expression-and-morphology-of-intact-thoroughbred-skeletal-muscle
#18
Kentaro Fukuda, Hirofumi Miyata, Atsutoshi Kuwano, Taisuke Kuroda, Norihisa Tamura, Yasumitsu Kotoyori, Yoshinori Kasashima
Platelet-rich plasma (PRP) therapy is promising for treating skeletal muscle injuries in human athletes by promoting muscle regeneration. It might also be useful for treating muscle injuries in equine athletes. In the present study, muscle regeneration induced by injection of PRP into intact muscle of Thoroughbred was investigated. Autologous PRP and saline were injected twice into intact left and right gluteus medius muscles of seven clinically healthy Thoroughbreds. Muscle samples were collected from the injection sites by needle biopsy at 2 and 7 days after PRP injection...
2017: Journal of Equine Science
https://www.readbyqxmd.com/read/28708709/genetics-influence-neurocognitive-performance-at-baseline-but-not-concussion-history-in-collegiate-student-athletes
#19
Graham D Cochrane, Mark H Sundman, Eric E Hall, Matthew C Kostek, Kirtida Patel, Kenneth P Barnes, Caroline J Ketcham
OBJECTIVE: This study investigates 4 single-nucleotide polymorphisms [Apolipoprotein E (APOE), APOE promoter, catechol-O-methyl transferase (COMT), and dopamine D2 receptor] that have been implicated in concussion susceptibility and/or cognitive ability in collegiate student-athletes. DESIGN: Cross-sectional study. SETTING: Neuroscience laboratory at Elon University. PARTICIPANTS: Two hundred fifty division I collegiate student-athletes (66 women, 184 men) from various sports...
July 11, 2017: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
https://www.readbyqxmd.com/read/28687478/factors-influencing-the-phenotypic-expression-of-hypertrophic-cardiomyopathy-in-genetic-carriers
#20
Inmaculada Pérez-Sánchez, Antonio José Romero-Puche, Esperanza García-Molina Sáez, María Sabater-Molina, José María López-Ayala, Carmen Muñoz-Esparza, David López-Cuenca, Gonzalo de la Morena, Francisco José Castro-García, Juan Ramón Gimeno-Blanes
INTRODUCTION AND OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is a disorder with variable expression. It is mainly caused by mutations in sarcomeric genes but the phenotype could be modulated by other factors. The aim of this study was to determine whether factors such as sex, systemic hypertension, or physical activity are modifiers of disease severity and to establish their role in age-related penetrance of HCM. METHODS: We evaluated 272 individuals (mean age 49 ± 17 years, 57% males) from 72 families with causative mutations...
July 4, 2017: Revista Española de Cardiología
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