Genetics and Sports 2nd, revised and extended edition

Transcription

1 Genetics and Sports 2nd, revised and extended edition

2 Medicine and Sport Science Vol. 61 Series Editors Dennis J. Caine Grand Forks, N.Dak. Andrew P. Hills Brisbane, Qld. Timothy Noakes Cape Town

3 Genetics and Sports 2nd, revised and extended edition Volume Editors Michael Posthumus Cape Town Malcolm Collins Cape Town 2 figures, and 6 tables, 2016 Basel Freiburg Paris London New York Chennai New Delhi Bangkok Beijing Shanghai Tokyo Kuala Lumpur Singapore Sydney

4 Medicine and Sport Science Founded 1968 by E. Jokl, Lexington, Ky. Honorary Series Editors: J. Borms, Brussels; M. Hebbelinck, Brussels Michael Posthumus, PhD Senior Research Officer Division of Exercise Science and Sports Medicine Department of Human Biology University of Cape Town Cape Town (South Africa) Malcolm Collins, BSc (Hons), PhD, FECSS Professor and HOD Department of Human Biology Faculty of Health Sciences University of Cape Town Cape Town (South Africa) Library of Congress Cataloging-in-Publication Data Names: Posthumus, Michael. Collins, Malcolm, author. Title: Genetics and sports / volume editors Michael Posthumus, Malcolm Collins. Other titles: Medicine and sport science ; v. 61. Description: 2nd, revised and extended edition. Basel ; New York : Karger, Series: Medicine and sport science ; Vol. 61 Includes bibliographical references and indexes. Identifiers: LCCN ISBN (hard cover : alk. paper) ISBN (electronic version) Subjects: MESH: Sports Genetic Phenomena Athletic Performance--physiology Exercise--physiology Athletic Injuries--genetics Genetic Techniques Classification: LCC RC1235 NLM QT 260 DDC /5--dc23 LC record available at Vol. 54 (1st edition) Genetics and Sports Editor: M. Collins, Cape Town, South Africa VIII p., 11 fig., 12 tab., hard cover, ISBN Bibliographic Indices. This publication is listed in bibliographic services, including Current Contents. Disclaimer. The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publisher and the editor(s). The appearance of advertisements in the book is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Drug Dosage. The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any change in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Copyright 2016 by S. Karger AG, P.O. Box, CH 4009 Basel (Switzerland) Printed in Germany on acid-free and non-aging paper (ISO 9706) by Kraft Druck GmbH, Ettlingen ISSN e-issn ISBN e-isbn

5 Contents VII Preface Posthumus, M.; Collins, M. (Cape Town) 1 Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury Gibson, W.T. (Vancouver, B.C.) 15 Nature versus Nurture in Determining Athletic Ability Yan, X.; Papadimitriou, I. (Melbourne, Vic.); Lidor, R. (Netanya); Eynon, N. (Melbourne, Vic.) 29 Recent Research in the Genetics of Exercise Training Adaptation Venezia, A.C.; Roth, S.M. (College Park, Md.) 41 Genes and Athletic Performance: An Update Ahmetov, I.I. (Kazan/Moscow); Egorova, E.S.; Gabdrakhmanova, L.J. (Kazan); Fedotovskaya, O.N. (Stockholm) 55 The Future of Genomic Research in Athletic Performance and Adaptation to Training Wang, G. (Eastbourne); Tanaka, M. (Tokyo); Eynon, N.; North, K.N. (Melbourne, Vic.); Williams, A.G. (Crewe); Collins, M. (Cape Town); Moran, C.N. (Stirling); Britton, S.L. (Ann Arbor, Mich.); Fuku, N. (Chiba); Ashley, E.A. (Stanford, Calif.); Klissouras, V. (Athens); Lucia, A. (Madrid); Ahmetov, I.I. (Kazan); de Geus, E. (Amsterdam); Alsayrafi, M. (Doha); Pitsiladis, Y.P. (Eastbourne) 68 Genes and Musculoskeletal Soft-Tissue Injuries Rahim, M.; Collins, M.; September, A. (Cape Town) 92 Genetics of Musculoskeletal Exercise-Related Phenotypes Collins, M. (Cape Town); O Connell, K. (Stellenbosch); Posthumus, M. (Cape Town) 105 Genetic Testing for Sports Performance, Responses to Training and Injury Risk: Practical and Ethical Considerations Williams, A.G. (Crewe/London); Wackerhage, H. (Aberdeen); Day, S.H. (Crewe) 120 Author Index 121 Subject Index V

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7 Preface The first edition of this book, Genetics and Sport, covered a number of topics in an attempt to obtain an integrated and holistic understanding of the field of sports and exercise genomics. Since the publication of the original edition in 2009, research in the field of genomics has continued to increase exponentially. Most notably, as the cost of whole-genome screening technology has become more affordable, we have seen a rise in the amount of genome-wide association studies. Other new technologies, such as copy number variants, next-generation sequencing technologies and epigenetic profiling, have further highlighted the complexities of trying to decipher exactly how the human genome regulates interindividual variation in athletic performance, response to training and susceptibility to injury as well as exercise-associated illnesses. Specific to the field of sports and exercise medicine, these technologies have only just started to contribute to our understanding of the interindividual differences in these traits (phenotypes). This book, the second edition in the series Genetics and Sport, provides an update on recent developments within the field. The introductory chapter outlines the basic methodologies of genetic association studies and discusses the technological advances in genomics. Noteworthy advances include an increased appreciation for the potential role of the epigenome in performance and injury. This is followed by an update in the often misunderstood debate of nature (genetics) versus nurture (common environmental effects such as training, diet, etc.) in determining athletic ability. This chapter explains how the environment interacts with the genome and how the traditional argument of nature versus nurture has become irrelevant as our knowledge advances. When discussing the genetics of athletic performance, it is important to consider that in addition to outcomes of performance, adaptation to training is also an extremely important phenotype which will translate to improved performance within an athlete. The following chapter reviews the recent advances in the genetics of exercise training adaptation. Despite a large amount of recent research, including further high-quality genome-wide approaches, such as the recent study produced from the HERITAGE cohort, the identification of genetic factors underlying the adaptations of various traits to exercise training remains unmet and elusive. Perhaps future mrna transcriptome and epigenetic work may prove why discovering repeatable genetic fac- VII

8 tors has been so challenging. Conclusions within the chapter reviewing the advances in the genetics of performance are very similar. Several genetic markers (155 to be exact) have been identified to date; however, the association of the majority of these markers has not been replicated (approx. 80%) in independent samples, raising the possibility that many of these markers may be the product of false-positive findings. As the next chapter on the future of genomic research describes, a future effort to elucidate the genetic contribution to both performance and adaptation to training requires large, multicentre collaborative projects with sound experimental designs. There is now mounting evidence that genetics plays an important role in both sport injury predisposition and other sports-related phenotypes. The evidence is reviewed within two subsequent chapters. Initially, the studies identifying genetic risk factors for musculoskeletal soft-tissue injuries are discussed. Since the genes associated with injury code for structural and/or regulatory components of musculoskeletal soft tissue, it is likely that these genetic variants affect the tissue mechanics. Thus, the subsequent chapter further reviews the genetics of other exercise-related phenotypes which also affect changes in tissue mechanical properties. The final chapter discusses the practical and ethical considerations regarding genetic tests to predict performance and/or risk of exercise-related injury or illness. It is important that scientists and practitioners understand the limitations of the available genetic tests, as well as the ethical concerns and importance of counselling before and after genetic testing. Michael Posthumus, Cape Town Malcolm Collins, Cape Town VIII Posthumus Collins