The human gene map for performance and health-related fitness phenotypes. Med. Sci. Sports Exerc., Vol. 33, No. 6, 2001, pp. 855–867. The aim of this paper is to describe the first human gene map for physical performance and health-related fitness traits based on the papers published until the end of 2000. Studies of candidate genes using case-control and other designs are reviewed. Quantitative trait loci from the limited evidence reported to date in genomic scans are also incorporated. Performance and fitness phenotypes in the sedentary state as well as their changes during exercise, if applicable, or in response to exercise training are considered. Physical performance traits include cardiorespiratory endurance indicators and muscular strength or muscular performance variables. Health-related fitness phenotypes are grouped under the following categories: hemodynamic traits; anthropometry and body composition; insulin and glucose metabolism; and lipids, lipoproteins, and hemostatic factors. A yearly update of this human gene map will be published.
A sample of 66 healthy, unrelated males with normal blood pressure were studied for a possible association between an insersion/deletion polymorphism in the gene coding for the angiotensin converting enzyme and blood pressure response to physical exercise. No association was found between the polymorphism and systolic blood pressure at rest and during stress. Statistically significant associations between the polymorphism and diastolic blood pressure were observed during exercise and post-stress...
A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of five individuals. Two assembly strategies—a whole-genome assembly and a regional chromosome assembly—were used, each combining sequence data from Cel...
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.
#1Tuomo Rankinen(Pennington Biomedical Research Center)H-Index: 80
#2Treva Rice(WashU: Washington University in St. Louis)H-Index: 72
Last. Claude Bouchard(Pennington Biomedical Research Center)H-Index: 174
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Abstract —Endothelium-dependent vasodilation is a mechanism that may affect blood pressure response to endurance training. Because NO plays a central role in this process, the endothelial NO synthase gene is a good candidate for the regulation of exercise blood pressure. We investigated the associations between an endothelial NO synthase gene polymorphism (Glu298Asp) and endurance training–induced changes in resting and submaximal exercise blood pressure in 471 white subjects of the HERITAGE Fam...
Background. Because of the scarcity of data available from direct comparisons of age and gender groups using the same relative training stimulus, it is unknown whether older individuals can increase their muscle mass as much as young individuals and whether women can increase as much as men in response to strength training (ST). In addition, little is known about whether the hypertrophic response to ST is affected by myostatin genotype, a candidate gene for muscle hypertrophy.
FATINI, C., R. GUAZZELLI, P. MANETTI, B. BATTAGLINI, F. GENSINI, R. VONO, L. TONCELLI, P. ZILLI, A. CAPALBO, R. ABBATE, G. F. GENSINI, and G. GALANTI. RAS genes influence exercise-induced left ventricular hypertrophy: an elite athletes study. Med. Sci. Sports Exerc., Vol. 32, No. 11, pp. 1868 ‐1872, 2000. Purpose: The association of ACE I/D polymorphism with changes in LV mass in response to physical training has been observed, but no association has been found with AT1R A1166C polymorphism. We ...
Purpose: In a case control study, we examined the allelic frequencies and genotype distributions of two restricted fragment length polymorphisms (RFLP) in the alpha-2A-adrenoceptor gene (ADRA2A) and beta-2-adrenoceptor gene (ADRB2) among elite endurance athletes (EEA) and sedentary controls (SC). Methods: The EEA group included 148 Caucasian male subjects recruited on the basis that they had a VO 2max > 74 mL O 2 .kg -1 .min -1 . The SC group comprised 149 unrelated sedentary male subjects, all ...
Angiotensin converting enzyme (ACE) plays an important role in the pathogenesis of pulmonary hypertension. In this study we determined whether the deletion (D)/insertion (I) polymorphism in the ACE gene may be associated with pulmonary hypertension evoked by exercise challenge in patients with chronic obstructive pulmonary disease (COPD). ACE genotypes were determined in 19 patients with COPD. All patients underwent right heart catheterization followed by a constant-load exercise test while brea...
Last. David Jones(University of Birmingham)H-Index: 95
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The response to strength training varies widely between individuals and is considerably influenced by genetic variables, which until now, have remained unidentified. The deletion (D), rather than the insertion (I), variant of the human angiotensin-converting enzyme (ACE) genotype is an important factor in the hypertrophic response of cardiac muscle to exercise and could also be involved in skeletal muscle hypertrophy – an important factor in the response to functional overload. Subjects were 33 ...
Last. Claude Bouchard(Pennington Biomedical Research Center)H-Index: 174
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We investigated the association between angiotensinogen (AGT) and angiotensin-converting enzyme (ACE) gene polymorphisms and exercise training responses of resting and exercise blood pressure (BP). BP at rest and during submaximal (50 watts) and maximal exercise tests was measured before and after 20 wk of endurance training in 476 sedentary normotensive Caucasian subjects from 99 families. AGT M235T and ACE insertion/deletion polymorphisms were typed with PCR-based methods. Men carrying the AGT...
Angiotensin-converting enzyme (ACE) gene has been reported to be one of the candidate genes for endurance performance. The ACE gene insertion/deletion (I/D) polymorphism (rs4646994) is responsible for the variation in the ACE plasma level. The insertion (I allele) of ACE I/D gene polymorphism decreases the level of ACE plasma, thus reducing skeletal muscle vasoconstriction. Skeletal muscle vasoconstriction increases oxygenated blood supply to working muscles for endurance performance. On the oth...
Last. Anthony Herrel(CNRS: Centre national de la recherche scientifique)H-Index: 71
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BACKGROUND Variation in locomotor capacity among animals often reflects adaptations to different environments. Despite evidence that physical performance is heritable, the molecular basis of locomotor performance and performance trade-offs remains poorly understood. In this study we identify the genes, signaling pathways, and regulatory processes possibly responsible for the trade-off between burst performance and endurance observed in Xenopus allofraseri, using a transcriptomic approach. RESULT...
Last. Yutaka Kimura(Kansai Medical University)H-Index: 3
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BACKGROUND: Although exercise is a standard treatment for postoperative osteoarthritis, interindividual differences have been reported. Epigenetic modification (DNA methylation), a factor causing interindividual differences, is altered by the environment and may affect all tissues. Performing a tissue biopsy to investigate methylation of skeletal muscle fat metabolism genes is invasive, and less invasive and convenient alternatives such as blood testing are desired. However, the relationship bet...
Alpha-actinin-3 (ACTN3) gene is one of the most extensively investigated genes associated with human physical performance. The ACTN3 gene via ACTN3 R/X gene polymorphism codes the ACTN3 protein proteins that are localized at the boundaries of sarcomeres in the contractile apparatus of muscle Z disk. The ACTN3 R allele codes for functioning ACTN3 gene that results in the production of ACTN3 protein, while incomplete sequence in the ACTN3 X allele, preventing the production of that protein. Given ...
#1Anja Bye(NTNU: Norwegian University of Science and Technology)H-Index: 19
#2Marie Klevjer(NTNU: Norwegian University of Science and Technology)H-Index: 1
Last. Ulrik Wisløff(UQ: University of Queensland)H-Index: 94
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Abstract Introduction Low maximal oxygen uptake (VO2max) is a strong and independent risk factor for all-cause and cardiovascular disease (CVD) mortality. For other CVD risk factors, numerous genetic association studies have been performed, revealing promising risk markers and new therapeutic targets. However, large genomic association studies on VO2max are still lacking, despite the fact that VO2max has a large genetic component. Methods We performed a genetic association study on 123.545 singl...
In biology, the study of heritable phenotype changes that do not involve alterations in the DNA sequence is epigenetics. It involves alterations affecting gene activity and expression; nonetheless, epigenetics can be used to define any heritable phenotypic modification. Such effects on phenotype traits can also result from exercise and external or environmental factors. In addition, epigenetics is functionally relevant to changes in the genome without involvement of alteration in the nucleotide ...
Last. Yutaka Kimura(Kansai Medical University)H-Index: 28
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Purpose: DNA methylation is thought to play a role in exercise-induced gene expression. We aimed to examine changes in muscular strength and body composition in elderly patients with end-stage knee osteoarthritis before and after artificial knee arthroplasty and exercise therapy. We aimed to confirm the relationship between DNA methylation and body composition, using the methylation rate of the pyruvate dehydrogenase kinase 4 (PDK4) gene that regulates skeletal muscle and fat metabolism. Patient...
The relationship between genes, amount of hemoglobin, and physical performance are still not clearly defined. The aim of this study was to examine the association between-551C/T and intron 2, +16 C/G polymorphisms in the beta hemoglobin (HBB) gene and total hemoglobin mass (tHbmass) and aerobic capacity in endurance athletes. Total hemoglobin mass and aerobic capacity indices, i.e.,V[Combining Dot Above]O2max, oxygen uptake at anaerobic threshold (V[Combining Dot Above]O2AT), maximal power outpu...