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      Genetic Approaches for Sports Performance: How Far Away Are We?

      review-article
      Sports Medicine (Auckland, N.z.)
      Springer International Publishing

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          Abstract

          Humans vary in their ‘natural ability’ related to sports performance. One facet of natural ability reflects so-called intrinsic ability or the ability to do well with minimal training. A second facet of natural ability is how rapidly an individual adapts to training; this is termed trainability. A third facet is the upper limit achievable after years of prolonged intense training; this represents both intrinsic ability and also trainability. There are other features of natural ability to consider, for example body size, because some events, sports, or positions favor participants of different sizes. In this context, the physiological determinants of elite endurance performance, especially running and cycling, are well known and can be used as a template to discuss these general issues. The key determinants of endurance performance include maximal oxygen uptake \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$(\dot{V}{\text{O}}_{2\hbox{max} } )$$\end{document} , the lactate threshold, and running economy (efficiency in the case of cycling or other sports). In this article, I use these physiological determinants to explore what is known about the genetics of endurance performance. My main conclusion is that at this time there are very few, if any, obvious relationships between these key physiological determinants of performance and DNA sequence variation. Several potential reasons for this lack of relationship will be discussed.

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          Most cited references36

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          Integrative biology of exercise.

          Exercise represents a major challenge to whole-body homeostasis provoking widespread perturbations in numerous cells, tissues, and organs that are caused by or are a response to the increased metabolic activity of contracting skeletal muscles. To meet this challenge, multiple integrated and often redundant responses operate to blunt the homeostatic threats generated by exercise-induced increases in muscle energy and oxygen demand. The application of molecular techniques to exercise biology has provided greater understanding of the multiplicity and complexity of cellular networks involved in exercise responses, and recent discoveries offer perspectives on the mechanisms by which muscle "communicates" with other organs and mediates the beneficial effects of exercise on health and performance.
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            Adaptations of skeletal muscle to endurance exercise and their metabolic consequences.

            Regularly performed endurance exercise induces major adaptations in skeletal muscle. These include increases in the mitochondrial content and respiratory capacity of the muscle fibers. As a consequence of the increase in mitochondria, exercise of the same intensity results in a disturbance in homeostasis that is smaller in trained than in untrained muscles. The major metabolic consequences of the adaptations of muscle to endurance exercise are a slower utilization of muscle glycogen and blood glucose, a greater reliance on fat oxidation, and less lactate production during exercise of a given intensity. These adaptations play an important role in the large increase in the ability to perform prolonged strenuous exercise that occurs in response to endurance exercise training.
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              No Support for Historical Candidate Gene or Candidate Gene-by-Interaction Hypotheses for Major Depression Across Multiple Large Samples

              Interest in candidate gene and candidate gene-by-environment interaction hypotheses regarding major depressive disorder remains strong despite controversy surrounding the validity of previous findings. In response to this controversy, the present investigation empirically identified eighteen candidate genes for depression studied ten or more times and examined evidence for their relevance to depression phenotypes. Utilizing data from large population-based and case-control samples ( n ranging from 62,138 to 443,264 across subsamples), we conducted a series of preregistered analyses examining polymorphism main effects, polymorphism × environmental moderator interactions, and gene-level effects across a number of operational definitions of depression (e.g., lifetime diagnosis, current severity, episode recurrence) and environmental moderators (e.g., sexual or physical abuse during childhood, socioeconomic adversity). There was no clear evidence for any candidate gene polymorphism associations with depression phenotypes or any polymorphism × environmental moderator effects. As a set, depression candidate genes were no more associated with depression phenotypes than noncandidate genes. We demonstrate that phenotypic measurement error is unlikely to account for these null findings. Our results do not support previous depression candidate gene findings, wherein large genetic effects are frequently reported in samples orders of magnitude smaller than those examined here. Instead, our results suggest that early hypotheses about depression candidate genes were incorrect and that the large number of associations reported in the depression candidate gene literature are likely to be false positives.
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                Author and article information

                Contributors
                joyner.michael@mayo.edu
                Journal
                Sports Med
                Sports Med
                Sports Medicine (Auckland, N.z.)
                Springer International Publishing (Cham )
                0112-1642
                1179-2035
                6 November 2019
                6 November 2019
                2019
                : 49
                : Suppl 2
                : 199-204
                Affiliations
                GRID grid.66875.3a, ISNI 0000 0004 0459 167X, Department of Anesthesiology and Perioperative Medicine, , Mayo Clinic, ; Rochester, MN 55905 USA
                Author information
                http://orcid.org/0000-0002-7135-7643
                Article
                1164
                10.1007/s40279-019-01164-z
                6901428
                31691930
                01296d47-854a-4e27-bcf1-59f3a0c3de93
                © The Author(s) 2019

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

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                © Springer Nature Switzerland AG 2019

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