Evolution in Health and Disease PDF
Preview Evolution in Health and Disease
Evolution in Health and Disease Second Edition EDITED BY Stephen C. Stearns and Jacob C. Koella 1 3 Great Clarendon Street, Oxford OX2 6DP Oxford University Press is a department of the University of Oxford. It furthers the University’s objective of excellence in research, scholarship, and education by publishing worldwide in Oxford New York Auckland Cape Town Dar es Salaam Hong Kong Karachi Kuala Lumpur Madrid Melbourne Mexico City Nairobi New Delhi Shanghai Taipei Toronto With offi ces in Argentina Austria Brazil Chile Czech Republic France Greece Guatemala Hungary Italy Japan Poland Portugal Singapore South Korea Switzerland Thailand Turkey Ukraine Vietnam Oxford is a registered trade mark of Oxford University Press in the UK and in certain other countries Published in the United States by Oxford University Press Inc., New York © Oxford University Press 2008 The moral rights of the authors have been asserted Database right Oxford University Press (maker) This edition 2008 1st edition 1999 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, without the prior permission in writing of Oxford University Press, or as expressly permitted by law, or under terms agreed with the appropriate reprographics rights organization. Enquiries concerning reproduction outside the scope of the above should be sent to the Rights Department, Oxford University Press, at the address above You must not circulate this book in any other binding or cover and you must impose the same condition on any acquirer British Library Cataloguing in Publication Data Data available Library of Congress Cataloging in Publication Data Evolution in health and disease / edited by Stephen C. Stearns and Jacob C. Koella.—2nd ed. p.; cm. Includes bibliographical references and index. ISBN 978–0–19–920745–9 (hardback: alk. paper) ISBN 978–0–19–920746–6 (pbk.: alk. paper) 1. Medical genetics. 2. Human evolution. 3. Disease—Causes and theories of causation. I. Stearns, S. C. (Stephen C.), 1946 II. Koella, Jacob C. [DNLM: 1. Evolution, Molecular. 2. Disease. 3. Health. QU 475 E95 2008] RB155.E96 2008 616’.042—dc22 2007033610 Typeset by Newgen Imaging Systems (P) Ltd., Chennai, India Printed in Great Britain on acid-free paper by Antony Rowe, Chippenham, Wiltshire ISBN 978–0–19–920745–9 (Hbk.) 978–0–19–920746–6 (Pbk.) 10 9 8 7 6 5 4 3 2 1 Preface to the Second Edition This book surveys the ways in which evolutionary As in the first edition the book comes in five thought illuminates medical science. It is intended parts: for a broad audience that includes medical stu- 1. Introduction dents, graduate students in the biological sciences, 2. The history and variation of human genes medical and biological educators, medical and 3. Natural selection and evolutionary conflicts biological researchers, medical practitioners, and 4. Pathogens: resistance, virulence, variation, and the interested public. Readers with backgrounds emergence in biology or medicine should feel at home; those 5. Non-infectious and degenerative disease, includ- without such backgrounds may at times feel chal- ing diseases associated with aging, cancer, nutri- lenged. We have asked the authors to reduce jargon tion, lifestyle, and metabolism and introduce technical terms with clear defini- tions; often we have succeeded, but not always. The chapter ending each part was commissioned Evolutionary thought illuminates medical as a survey of important issues not covered in issues from a fresh angle; it does not replace other chapters that precede it. By using this technique approaches. It complements; it does not compete. we hope to have achieved fairly complete coverage The content of this edition is almost entirely new. of at least the most important issues. Only in Chapters 1, 6, and 12 will you find pas- Bringing evolutionary thought into medical sages that appeared in the first edition, and even research and practice helps to explain how many those three chapters are almost completely rewrit- medical issues arose in the first place. It can also ten. The contributors are also mostly new. Only 11 help to save many lives and to reduce much suf- of the 61 scientists who contributed to the first edi- fering. For those reasons we hope that the ideas tion are represented here. Close to 60% of the cited presented here find a broad and sympathetic audi- references were published after the first edition. ence open to fresh approaches that do not sacrifice This does not, however, mean that the topics cov- scientific rigor. ered have changed radically. Many of the impor- Stephen C. Stearns, New Haven, CT USA tant issues discussed in the first edition remain, Jacob C. Koella, Ascot, UK here viewed with fresh perspective. May 2007 v Contents List of Contributors xix Part I Introduction 1 1 Introducing evolutionary thinking for medicine 3 Stephen C. Stearns, Randolph M. Nesse, and David Haig Introduction 3 Mismatched to modernity 3 Adaptation takes time: lactose tolerance 3 Birth control and cancer risk 4 Early-life events with late-life consequences 4 Parasite load and autoimmune disease 4 Infection 5 Resistance 5 Virulence 5 Emerging diseases 5 Reproduction 5 Evolved confl icts between mother and offspring 5 Evolved confl icts between mother and father 6 Spontaneous abortions and complementary immune genes 6 Populations have histories 6 Evolutionary technologies 7 Phylogenetic reconstructions 7 Attenuated live vaccines 7 The nature of evolutionary explanations 7 Microevolution, macroevolution, and development 7 Mechanistic and evolutionary explanations 8 Natural selection 8 How selection works 8 Fitness is relative reproductive success 9 Natural selection has several components: individual, sexual, and kin selection 9 Traits do not evolve for the good of the species 10 Random events and neutral variation: how neutral evolution works 10 Trade-offs 11 Macroevolution 12 Relationships and fossils reveal history 12 Constraints: eyes and tubes 12 vii viii CONTENTS Conclusion 13 Health, fi tness, and the pursuit of happiness 13 Human diversity 13 Implications for medical practice, research, and education 14 What doctors need to know about evolution and why 14 Part II The history and variation of human genes 17 2 Global spatial patterns of infectious diseases and human evolution 19 Jean-François Guégan, Franck Prugnolle, and Frédéric Thomas Introduction 19 Geographical aspects of human diseases 19 Latitude and the species diversity of human pathogens 20 Longitude and the species diversity of human pathogens 21 Latitude and the nested pattern of human pathogens 21 Latitude and the geographical range of human pathogens 21 Geographical area and the species diversity of human pathogens 21 Historical patterns of the distribution of disease 22 Pathogen distribution and human genetic evolution 23 Pathogen distribution and human genetic evolution: the case of sickle cell disease 23 Variations in pathogen diversity and human genetic evolution: the HLA genes 25 Infectious diseases and human life-history traits 26 Human fertility and the species diversity of human pathogens 27 Human birthweight and the species diversity of human pathogens 27 Human behavior and culture, and the species diversity of human pathogens 27 Summary 28 Acknowledgments 29 3 Medically relevant variation in the human genome 31 Diddahally R. Govindaraju and Lynn B. Jorde Introduction 31 Molecular markers 32 Microsatellites 32 Single nucleotide polymorphisms (SNPs) 34 Haplotypes 34 Determination of haplotypes 35 Linkage disequilibrium, recombination and haplotype blocks 35 Linkage disequilibrium 35 Recombination and recombination hotspots 36 The structured genome—haplotype blocks 37 TagSNPs 37 The HapMap project 37 Background 37 Findings 38 Structural variation 40 Inference of evolutionary processes 40 Natural selection 40 CONTENTS ix Genetic drift 41 Admixture 41 Causal SNPs and the magnitude of their effects 41 Summary 42 Acknowledgments 42 4 Health consequences of ecogenetic variation 43 Michael Bamshad and Arno G. Motulsky Introduction 43 Genetic basis of variation in drug metabolism and response 44 Genetic basis of monogenic drug reactions 44 Genetic basis of complex pharmacogenetic traits 45 Genetic basis of chemosensory perception and food preferences 45 Bitter taste sensitivity 46 Sweet and umami taste sensitivity 47 Lactase persistence 48 The structure of human populations 49 Correspondence between race and population structure 49 Race as a proxy for genetic ancestry 50 Conclusions 50 Acknowledgments 50 5 Human genetic variation of medical signifi cance 51 Kenneth K. Kidd and Judith R. Kidd Introduction 51 The pattern of human genetic variation 51 The amount and nature of human genetic variation 52 The human expansion out of Africa 52 The impact of genetic variants—or lack of it 53 The role of selection 55 The impact of population bottlenecks on genetic patterns 55 Disease can cause bottlenecks 56 Migration out of Africa 58 Complex disease and evolution 58 Genetic infl uences on alcoholism 59 Variation in ethanol metabolism and alcoholism 59 Variation in taste perception and alcohol dependence 61 Summary 62 Acknowledgments 62 Part III Natural selection and evolutionary confl icts 63 6 Intimate relations: Evolutionary confl icts of pregnancy and childhood 65 David Haig Introduction 65 Parental justice 65 x CONTENTS Internal confl icts 66 Credibility problems 67 Pregnancy termination 67 Menstruation 67 Selective abortion 68 Gestation length 69 Infanticide 70 Maternal circulation 71 Preeclampsia 72 Growth 73 Fat 73 Brains and bodies 74 Intergenerational confl icts 75 Summary 76 Acknowledgments 76 7 How hormones mediate trade-offs in human health and disease 77 Richard G. Bribiescas and Peter T. Ellison Introduction: Hormones, life history, evolution, and health 77 Hormones and trade-offs 77 Hormones, population variation, and phenotypic plasticity 79 Hormones and trade-offs in males 80 Androgens and fetal development 80 Childhood quiescence 80 Adolescent development, morbidity, and mortality 81 What are the benefi ts of testosterone in adult males? 81 Testosterone and somatic investment 82 Testosterone and immune function 82 Fatherhood and paternal investment 84 The aging male 84 Hormones and female reproductive trade-offs 85 Constraints on female reproductive success 85 Birthweight and infant survival 86 Parturition 86 Lactation and birth spacing 87 The resumption of ovarian cycling 88 Waiting time to conception 88 The timing of conception and human reproductive seasonality 89 Age and female fecundity 90 Contemporary medical implications 91 Metabolic syndrome 91 Cancer 91 Hormonal supplementation 91 Hormonal caveats 92 Summary 92 CONTENTS xi 8 Functional signifi cance of MHC variation in mate choice, reproductive outcome, and disease risk 95 Dagan A. Loisel, Susan C. Alberts, and Carole Ober Introduction 95 Genes of the major histocompatibility complex 95 Form and function of MHC molecules 96 Evolution of MHC genes 96 Pathogen-mediated selection on MHC genes 97 Sexual selection on MHC genes 98 MHC-mediated mate choice in non-human vertebrates 99 Role of the MHC in human mate choice 100 Evolutionary implications of MHC-mediated mate choice 101 MHC-linked olfactory cues 102 Infl uence of MHC peptide-binding region on odor 102 MHC peptide ligands as olfactory cues 102 Detection of MHC-mediated odors 103 Peptide binding as an integrating principle in MHC evolution 103 MHC and reproductive outcome 103 MHC sharing and reproduction in outbred human populations 104 MHC sharing and reproductive outcome in an unselected population 104 MHC sharing, reproduction, and diversity 105 HLA-G in reproduction, immune regulation, and disease 105 HLA-G in reproductive, autoimmune, and infl ammatory pathologies 106 Evolution of HLA-G 106 The cost of protection: non-adaptive consequences of MHC diversity 106 Conclusions 107 Summary 108 Acknowledgments 108 9 Perspectives on human health and disease from evolutionary and behavioral ecology 109 Beverly I. Strassmann and Ruth Mace Introduction 109 Phenotypic plasticity 109 Kin selection theory 112 Step-parents 113 Adoption 113 Life-history theory 114 Trade-offs 114 Offspring number versus quality 115 Parental effort versus longevity 115 Menopause and the post-reproductive life span 116 Parental investment theory 117 Infanticide 117 Sex ratios 117 xii CONTENTS Sexual selection theory 118 Higher mortality of males than females 119 Sexual jealousy and genital cutting 120 Summary 120 Acknowledgments 121 Part IV Pathogens: resistance, virulence, variation, and emergence 123 10 The ecology and evolution of antibiotic-resistant bacteria 125 Carl T. Bergstrom and Michael Feldgarden Introduction 125 History of clinical antibiotic resistance 126 Genetic mechanisms 127 Point mutations 127 Homologous recombination 128 Heterologous recombination 128 Natural ecology 129 Soil ecology 129 Agricultural use 129 Hospital transmission 130 Population genetics 131 Linked genes 131 Compensatory mutation 132 Applying evolution/approaches for the future 133 Predicting resistance evolution 133 Narrow spectrum antibiotics 133 Bacteriocins 133 Quorum sensing disruptors 134 Ecological modeling 135 Antibiotic cycling 135 Conclusions 136 Summary 137 Acknowledgments 137 11 Pathogen evolution in a vaccinated world 139 Andrew F. Read and Margaret J. Mackinnon Introduction 139 Vaccines have consequences for pathogen evolution 139 Hepatitis B 139 Pertussis 141 Pneumococcal disease 141 Diphtheria 141 Malaria 141 Avian infl uenza 142 Marek’s disease 142 Infectious bursal disease (IBD) 142 Thus, vaccines are not evolution-proof 143
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