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Sports genetics

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https://www.readbyqxmd.com/read/28315876/angiotensin-converting-enzyme-ins-del-polymorphism-and-body-composition-the-intermediary-role-of-hydration-status
#1
Laura Bordoni, Valerio Napolioni, Francesca Marchegiani, Emilio Amadio, Rosita Gabbianelli
BACKGROUND: The well-known insertion/deletion polymorphism (rs4646994) of the angiotensin-converting enzyme (ACE) gene has been previously associated with obesity, blood flow, muscular strength, and ACE enzyme activity. Despite the relevant role of ACE in homeostasis, few data are currently available on the relationship between rs4646994 and hydration status. Thus, we tested the association between the ACE Ins/Del polymorphism, body composition, and hydration status in a young Italian population...
March 18, 2017: Journal of Nutrigenetics and Nutrigenomics
https://www.readbyqxmd.com/read/28261436/orthopedic-manifestations-of-type-i-camurati-engelmann-disease
#2
Alisher J Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Jong Hee Chae, Won Joon Yoo, In Ho Choi, Ok Hwa Kim, Tae-Joon Cho
BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course...
March 2017: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/28239025/the-role-of-single-nucleotide-variants-of-the-energy-metabolism-linked-genes-sirt3-ppargc1a-and-apoe-in-amyotrophic-lateral-sclerosis-risk
#3
Diego Albani, Elisabetta Pupillo, Elisa Bianchi, Armando Chierchia, Rosalba Martines, Gianluigi Forloni, Ettore Beghi
Amyotrophic lateral sclerosis (ALS) is a multifactorial disease, possibly with contributions from genetics and lifestyle. We examined variants in genes relevant to energy metabolism and physical activity in a case-control association study, with the aim of assessing genetics and physical activity as contributors to ALS risk. A well-characterized sample of Italian ALS patients (101) and controls (101) from the EURALS Consortium underwent a questionnaire interview on demographic, physical and other lifestyle habits, and venipuncture for DNA extraction...
February 24, 2017: Genes & Genetic Systems
https://www.readbyqxmd.com/read/28230530/developing-a-multi-component-immune-model-for-evaluating-the-risk-of-respiratory-illness-in-athletes
#4
Maree Gleeson, David B Pyne, Lisa J Elkington, Sharron T Hall, John R Attia, Christopher Oldmeadow, Lisa G Wood, Robin Callister
Clinical and laboratory identification of the underlying risk of respiratory illness in athletes has proved problematic. The aim of this study was to determine whether clinical data, combined with immune responses to standardised exercise protocols and genetic cytokine polymorphism status, could identify the risk of respiratory illness (symptoms) in a cohort of highly-trained athletes. Male endurance athletes (n=16; VO2max 66.5 ± 5.1 mL.kg-1.min-1) underwent a clinical evaluation of known risk factors by a physician and comprehensive laboratory analysis of immune responses both at rest and after two cycling ergometer tests: 60 min at 65% VO2max (LONG); and 6 x 3 min intervals at 90% VO2max (INTENSE)...
2017: Exercise Immunology Review
https://www.readbyqxmd.com/read/28196030/physical-activities-and-lifestyle-factors-related-to-adolescent-idiopathic-scoliosis
#5
Kota Watanabe, Takehiro Michikawa, Ikuho Yonezawa, Masashi Takaso, Shohei Minami, Shigeru Soshi, Takashi Tsuji, Eijiro Okada, Katsumi Abe, Masamichi Takahashi, Keiko Asakura, Yuji Nishiwaki, Morio Matsumoto
BACKGROUND: In addition to genetic factors, environmental and lifestyle factors are thought to play an important role in the onset of adolescent idiopathic scoliosis (AIS). This cross-sectional study was conducted to explore lifestyle factors related to AIS. METHODS: This study included 2,759 Japanese female junior high school students who planned a secondary screening after an initial moiré topography screening indicated possible scoliosis. The students and their mothers, or guardians, were asked to fill out a questionnaire consisting of 38 questions about demographic factors, lifestyle-related factors, social factors, household environment, participation in sports, health status, and factors related to the mother's pregnancy and delivery...
February 15, 2017: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/28184307/low-back-pain-and-foki-rs2228570-polymorphism-of-vitamin-d-receptor-in-athletes
#6
Sabina Cauci, Francesca Migliozzi, Carlo Simone Trombetta, Ilaria Venuto, Paola Saccheri, Luciana Travan, Giovanni Chiriacò
BACKGROUND: Low back pain (LBP) is common in athletes. LBP can be detrimental to athletic performance and health. Factors predisposing to LBP in athletes remain elusive and require further studies. We investigated whether carriage of a specific genotype and/or allele of vitamin D receptor gene (VDR) FokI polymorphism (rs2228570) was a risk factor for LBP in athletes of different sports disciplines. METHODS: This genotype/phenotype association case-control study included 60 Italian athletes (25 females and 35 males; mean age 33...
2017: BMC Sports Science, Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28137212/diagnosis-and-treatment-of-dyslipidaemias-in-athletes
#7
Georgios A Christou, Evangelia J Kouidi, Asterios P Deligiannis, Dimitrios N Kiortsis
The beneficial effects of chronic exercise training on lipoprotein metabolism include a considerable increase in serum high density lipoprotein-cholesterol and a reduction in serum triglyceride levels. These changes are mostly reported in athletes participating in dynamic sports, especially in the endurance ones. Diagnosis and treatment of dyslipidaemias in athletes should follow the main principles of management of dyslipidaemias for the general population, while specific considerations for athletes should be taken into account...
January 27, 2017: Current Vascular Pharmacology
https://www.readbyqxmd.com/read/28134228/knowledge-on-bronchial-asthma-among-teachers-and-educators-preliminary-results-of-a-pilot-study
#8
Andrzej Witusik, Łukasz Mokros, Tadeusz Pietras
One of the elements contributing to development of health-promoting behaviors is knowledge transmitted by teachers. AIM: The aim of the research was to assess the teachers' and educators' knowledge on bronchial asthma. MATERIALS AND METHODS: The survey consisting of closed multiple choice questions concerning bronchial asthma was conducted among 106 teachers. The questionnaire contained 12 questions selected by competent judges. To verify statistical hypotheses, we used Pearson Chi2 test with Benjamini-Hochberg correction...
January 23, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28130115/strategies-that-athletes-use-to-avoid-detection-of-androgenic-anabolic-steroid-doping-and-sanctions
#9
Hussain Alquraini, Richard J Auchus
Androgenic-anabolic steroids (AAS) are potent and widely used performance-enhancing substances (PES). Since the International Olympic Committee (IOC) began testing athletes for AAS in the 1970s, athletes and their teams have endeavored to beat the system to avoid doping violations and/or sanctions derived from positive test results. This review will discuss the strategies used to avoid detection based on the pharmacology, biochemistry, and genetics of AAS metabolism and testing principles. Another strategy used is to dope with testosterone under the guise that the athlete has a true medical condition that requires testosterone treatment, using the therapeutic use exemption (TUE) mechanism...
January 24, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28129848/using-the-zebrafish-to-understand-tendon-development-and-repair
#10
J W Chen, J L Galloway
Tendons are important components of our musculoskeletal system. Injuries to these tissues are very common, resulting from occupational-related injuries, sports-related trauma, and age-related degeneration. Unfortunately, there are few treatment options, and current therapies rarely restore injured tendons to their original function. An improved understanding of the pathways regulating their development and repair would have significant impact in stimulating the formulation of regenerative-based approaches for tendon injury...
2017: Methods in Cell Biology
https://www.readbyqxmd.com/read/28080077/dogs-canis-familiaris-attention-to-human-perception-influence-of-breed-groups-and-life-experiences
#11
Marianne T E Heberlein, Dennis C Turner, Marta B Manser
Attending to the perception of others may help individuals gaining information from conspecifics, or help in competitive situations. Dogs (Canis familiaris) are attentive to humans' signals and their attentional state. We investigated whether dogs of different breed groups differ in their ability to pay attention to human's perception, first according to the genetic relatedness between dog breeds, and second according to working style differences. Once dogs had learned to leave forbidden food on the floor, they were confronted with 2 food items to which only they had unrestricted visual access...
February 2017: Journal of Comparative Psychology
https://www.readbyqxmd.com/read/28074345/the-beneficial-effects-of-physical-activity-is-it-down-to-your-genes-a-systematic-review-and-meta-analysis-of-twin-and-family-studies
#12
REVIEW
J R Zadro, D Shirley, T B Andrade, K J Scurrah, A Bauman, P H Ferreira
BACKGROUND: There is evidence for considerable heterogeneity in the responsiveness to regular physical activity (PA) which might reflect the influence of genetic factors. The aim of this systematic review was to assess whether the response to a PA intervention for measures of body composition and cardiorespiratory fitness is (i) correlated within twin pairs and/or families and (ii) more correlated in monozygotic twins (MZ) compared to dizygotic twins (DZ), which would be consistent with genetic effects...
December 2017: Sports Medicine—Open
https://www.readbyqxmd.com/read/28039429/limited-potential-of-genetic-predisposition-scores-to-predict-muscle-mass-and-strength-performance-in-flemish-caucasians-between-19-73-years-of-age
#13
Ruben Charlier, Maarten Caspers, Sara Knaeps, Evelien Mertens, Diether Lambrechts, Johan Lefevre, Martine Thomis
Since both muscle mass and strength performance are polygenic in nature, the current study compared four Genetic Predisposition Scores (GPS) in their ability to predict these phenotypes. Data were gathered within the framework of the first generation Flemish Policy Research Centre 'Sport, Physical Activity and Health' (2002-2004). Results are based on muscle characteristics data of 565 Flemish Caucasians (19-73 yr, 365 men). Skeletal muscle mass (SMM) was determined using bioelectrical impedance. The Biodex dynamometer was used to measure isometric (PTstatic120°) and isokinetic strength (PTdynamic60° and PTdynamic240°), ballistic movement speed (S20%) and muscular endurance (Work) of the knee extensors...
December 30, 2016: Physiological Genomics
https://www.readbyqxmd.com/read/28007336/the-combined-frequency-of-igf-and-myostatin-polymorphism-among-track-field-athletes-and-swimmers
#14
Sigal Ben-Zaken, Yoav Meckel, Dan Nemet, Alon Eliakim
OBJECTIVE: The IGF C-1245T (rs35767) and the myostatin (MSTN) Lys(K)-153Arg(R) genetic polymorphism may influence skeletal muscle phenotypes and athletic performance. Carrying the minor IGF T allele and the myostatin rare R allele was associated with higher circulating IGF-I levels, greater muscle mass and improved performance. The aim of the present study was to assess the combined frequency of the IGF 1245T (rs35767) and MSTN 153Arg(R) polymorphism among Israeli track and field athletes (n=111) and swimmers (n=80)...
December 15, 2016: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/27991836/correlations-between-col2a-and-aggrecan-genetic-polymorphisms-and-the-risk-and-clinicopathological-features-of-intervertebral-disc-degeneration-in-a-chinese-han-population-a-case-control-study
#15
Yu Deng, Xin-Ti Tan, Qiang Wu, Xin Wang
OBJECTIVES: This case-control study was designed to evaluate the association of three COL2A1 single nucleotide polymorphism (SNPs) (rs1793953, rs2276454, and rs1793937) and Aggrecan variable number of tandem repeat (VNTR) polymorphisms with the risk and clinicopathological features of intervertebral disc degeneration (IVDD) in a Chinese Han population. MATERIALS AND METHODS: Data from 295 IVDD patients (case group) and 324 healthy volunteers (control group) were collected between January 2012 and December 2014...
February 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27966054/lifestyle-risk-factors-for-breast-cancer-in-brca1-2-mutation-carriers-around-childbearing-age
#16
A van Erkelens, L Derks, A S Sie, L Egbers, G Woldringh, J B Prins, P Manders, N Hoogerbrugge
BRCA1/2-mutation carriers are at high risk of breast cancer (BC) and ovarian cancer. Physical inactivity, overweight (body mass index ≥25, BMI), smoking, and alcohol consumption are jointly responsible for about 1 in 4 postmenopausal BC cases in the general population. Limited evidence suggests physical activity also increases BC risk in BRCA1/2-mutation carriers. Women who have children often reduce physical activity and have weight gain, which increases BC risk. We assessed aforementioned lifestyle factors in a cohort of 268 BRCA1/2-mutation carriers around childbearing age (born between 1968 and 1983, median age 33 years, range 21-44)...
December 13, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27928207/the-agt-gene-m235t-polymorphism-and-response-of-power-related-variables-to-aerobic-training
#17
Zarębska Aleksandra, Jastrzębski Zbigniew, Moska Waldemar, Leońska-Duniec Agata, Kaczmarczyk Mariusz, Sawczuk Marek, Maciejewska-Skrendo Agnieszka, Żmijewski Piotr, Ficek Krzysztof, Trybek Grzegorz, Lulińska-Kuklik Ewelina, Ekaterina A Semenova, Ildus I Ahmetov, Cięszczyk Paweł
The C allele of the M235T (rs699) polymorphism of the AGT gene correlates with higher levels of angiotensin II and has been associated with power and strength sport performance. The aim of the study was to investigate whether or not selected power-related variables and their response to a 12-week program of aerobic dance training are modulated by the AGT M235T genotype in healthy participants. Two hundred and one Polish Caucasian women aged 21 ± 1 years met the inclusion criteria and were included in the study...
December 2016: Journal of Sports Science & Medicine
https://www.readbyqxmd.com/read/27928199/association-of-anxiety-related-polymorphisms-with-sports-performance-in-chilean-long-distance-triathletes-a-pilot-study
#18
Jorge A Sanhueza, Tomás Zambrano, Carlos Bahamondes-Avila, Luis A Salazar
Different factors affecting athletic performance are well established: intensity and type of training, anthropometric characteristics as well as an important psychological component. However, the contribution of the genetic background has been less investigated. The aim of the present study was to investigate the influence of polymorphisms within genes associated with stress and anxiety (5HTT, CRH2R, ACE, NK1R, 5HT1AR and CRF-BP) on the physical capability and sports performance in triathletes. One hundred and ninety two (192) unrelated Chilean triathletes who participated in the 2014 70...
December 2016: Journal of Sports Science & Medicine
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#19
REVIEW
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27903671/sports-related-lung-injury-during-breath-hold-diving
#20
Tanja Mijacika, Zeljko Dujic
The number of people practising recreational breath-hold diving is constantly growing, thereby increasing the need for knowledge of the acute and chronic effects such a sport could have on the health of participants. Breath-hold diving is potentially dangerous, mainly because of associated extreme environmental factors such as increased hydrostatic pressure, hypoxia, hypercapnia, hypothermia and strenuous exercise.In this article we focus on the effects of breath-hold diving on pulmonary function. Respiratory symptoms have been reported in almost 25% of breath-hold divers after repetitive diving sessions...
December 2016: European Respiratory Review: An Official Journal of the European Respiratory Society
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