Genetic factors in coronary heart disease PDF
Preview Genetic factors in coronary heart disease
Genetci factors in coronary heart disease Dedication To Naomi, Eva and Grethe Genetic factors in coronary heart disease Edited by Uri Goldbourt Professor of Epidemiology and Preventive Medicine, Sackler Medical Faculty, and Head, Epidemiology and Biostatistics, the Neufeld Cardiac Research Institute, Sheba Medical Center and Tel Aviv University, Israel Ulf de Faire Professor, Division of Epidemiology , Institute of Environmental Medicine, Karolinska Institute and Division of Cardiovascula r Medicine, Department of Internal Medicine, Karolinska Hospital, Stockholm, Sweden and Kär e Berg Professor of Medicine, Chairman of Institute of Medical Genetics; Director and Physician-in-Chief , Department of Medical Genetics, Ulleväl University Hospital, Oslo, Norway 14 SPRINGER-SCIENCE+BUSINS EMSEDIA, B.V. A catalogue record for this book is available from the British Library ISBN 978-94-010-4494-3 Library of Congress Cataloging in Publication Data Genetic factors in coronary heart disease / edited by Uri Goldbourt, Ulf de Faire, and Kare Berg. p. cm. Includes index. ISBN 978-94-010-4494-3 ISBN 978-94-011-1130-0 (eBook) DOI 10.1007/978-94-011-1130-0 1. Coronary heart disease—Genetic aspects. I. Goldbourt, Uri. II. De Faire, Ulf. III. Berg, Kare. [DNLM: 1. Coronary Disease—genetics. 2. Risk Factors. WG 300 G3283 1994] RC685.C6G37 1994 616.1'23042—dc20 DNLM/DLC for Library of Congress 94-4615 Copyright © 1994 by Springer Science+Business Media Dordrecht Originally published by Kluwer Academic Publishers in 1994 Softcover reprint of the hardcover 1st edition 1994 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, electronic, mechanical, photocopying, recording or otherwise, without prior permission from the publishers, Springer Science+Business Media, B.V.. Typeset by Lasertext Ltd, Stretford, Manchester, UK. Contents List of Contributors ix Introduction xiii PART ONE: Coronary heart disease in families and populations 1. Differences in frequency of atherosclerosis and coronary heart disease between populations and ethnic groups Uri Goldbourt 3 2. Variation of atherosclerosis and coronary heart disease by age and sex Uri Goldbourt 21 3. Familial clustering of coronary heart disease: a review of its significance and role as a risk factor for the disease Yechiel Friedlander 37 4. Studies of twins and adoptees in coronary heart disease Ulf de Faire and Nancy Pedersen 55 PART TWO: Coronary heart disease risk factors and their genetics 5. Assessing genetic and cultural heritabilities D. C. Rao and George P. Vogler 71 6. Lipids, apolipoproteins and lipoproteins Daniel J. Rader and H. Bryan Brewer Jr. 83 7. Low density lipoprotein subclass phenotypes Melissa A. Austin 105 v GENETIC FACTORS IN CORONARY HEART DISEASE 8. Rabbit models in genetic research in atherosclerosis Masashi Shiomi and Yoshio Watanabe 115 9. Fibrinogen, factor VII, and plasminogen activator inhibitor-1 William P. Fay and David Ginsburg 125 10. Homocysteine Killian Robinson, Kok Soon Tan and Ian M. Graham 139 11. Blood pressure variation Clarence E. Grim and Miguel T. Robinson 153 12. Rat models for atherosclerosis Yukio Yamori 179 13. Human obesities Claude Bouchard 189 14. Diabetes and insulin resistance Leslie J. Raffel, Tamar Shohat and Jerome I. Rotter 203 15. Smoking and sports participation Judith R. Koopmans, Lorenz J. P. van Doornen and Dorret I. Boomsma 217 PART THREE: Monogenic traits affecting coronary heart disease Incidence 16. Genetic defects in lipoprotein metabolism Gustav Schonfeld and Elaine S. Krul 239 17. Familial hypercholesterolaemia Eran Leitersdorf 267 18. Lp(a) lipoprotein: a monogenic risk factor for cardiovascular disease K;:}re Berg 275 19. Apolipoprotein E polymorphism and atherosclerosis risk Jean Dal/ongevil/e 289 PART FOUR: Molecular approaches to clinical research 20. From random genetic markers to candidate genes in association and linkage studies of coronary heart disease and its risk factors K;:}re Berg 301 vi CONTENTS 21. Plasma triglyceride transport D. J. Galton, R. K. Mattu and J. Stocks 309 22. Normal polymorphism at the low density lipoprotein receptor (LOLR) locus: effect on cholesterol levels and interaction with apolipoprotein E (apoE) genes Jan Chr. Pedersen and Kare Berg 323 PART FIVE: Genetic aspects of vessel wall processes 23. Intimal thickening, morphology and epidemiology Uri Goldbourt 331 24. Regulation of arterial smooth muscle cell proliferation during development and lesion formation Jan Nilsson and Anna Hultgardh Nilsson 337 25. Reverse cholesterol transport Jeffrey M. Hoeg and Alan T. Remaley 351 PART SIX: Genetic variation and approaches to clinical research and preventive/public health actions 26. Gene-environment interaction: variability gene concept Kare Berg 373 27. Genetic factors, cardiovascular reactivity and blood pressure variability Thomas G. Pickering and William Gerin 385 28. Genetic variation and nutrition Uri Goldbourt 397 29. Genetic variation and cardiac pharmacotherapy Lidia Arcavi 409 30. Practical approaches for finding and helping coronary-prone families with special reference to familial hypercholesterolaemia Roger R. Williams, M. Catherine Schumacher, Paul N. Hopkins, Steven C. Hunt, Lily L. Wu, Sandra J. Hasstedt, Barry M. Stults, Joan L. Ware, Brent C. James, G. Michael Vincent, Michael Pratt, Barbara D. Latham and Victor Bulyzhenkov 425 Concluding remarks 447 Index 449 vii List of Contributors Lidia Arcavl Jean Daliongeville Internal Medicine B Departement d'Etudes des Lipides et Kaplan Hospital des Lipoproteines Rehovot 76100 Institut Pasteur de Lille Israel 1 rue du Professeur Calmette P.O. Box 245 F-59019 Lille Cedex France Melissa A. Austin Department of Epidemiology School of Public Health and Ulf de Falre Community Medicine Division of Cardiovascular Medicine University of Washington Karolinska Hospital Seattle, WA 98195 Box 60500 USA S-104 01 Stockholm Sweden Co-author: Nancy Pedersen K6re Berg Institute of Medical Genetics William P. Fay University of Oslo and Division of Cardiology UlievAI University Hospital The University of Michigan Medical P.O. Box 1036, Blindern Center, 3560 MSRBII N-0135 Oslo 3 1150 W. Medical Center Drive Norway Ann Arbor, MI 48109-0688 USA Co-author: David Ginsburg Dorrel I. Boomsma Department of Physiological Psychology Yechlel Friedlander Free University Amsterdam Department of Social Medicine De Boelelaan 1111 School of Public Health 1081 HV Amsterdam Hadassah University Hospital The Netherlands P.O. Box 12000 Co-authors: Judith R. Koopmans and Ein Karem, Jerusalem Lorenz J. P. van Doornen Israel David J. Galton Claude Bouchard Department of Human Metabolism Physical Activity Sciences Laboratory, and Genetics PEPS St. Bartholomew's Hospital Laval University London, EC1A 7BE Ste-Foy, Quebec UK Canada G1K 7P4 Co-authors: R. K. Mattu and J. Stocks ix GENETIC FACTORS IN CORONARY HEART DISEASE Uri Goldbourt Thomas G. Pickering Section of Epidemiology and Cardiovascular Center Biostatistics The New York Hospital - Cornell Henry N. Neufeld Cardiac Research Medical Center Institute 525 East 68th Street, Starr-4 Sheba Medical Center New York, NY 10021 Tel Hashomer 52621 USA Israel Co-author: William Gerin Daniel J. Rader Institute for Human Gene Therapy Clarence E. Grim 601 Maloney Hypertension Research University of Pennsylvania Medical Charles R. Drew University Center 1621 E. 120th St. 3400 Spruce St. Los Angeles, CA 90059 Philadelphia, PA 19104 USA USA Co-author: Miguel T. Robinson Co-author: H. Bryan Brewer, Jr. Leslie J. Raffel Jeffrey M. Hoeg Assistant Professor of Pediatrics and Head, Section of Cell Biology Medicine Molecular Disease Branch Associate Director, Common Disease National Heart, Lung and Blood Genetics Program Institute, NIH Cedars-Sinai Medical Center Bethesda, MD 20892 8700 Beverly Boulevard USA Los Angeles, CA 90048 Co-author: Alan T. Remaley USA Co-authors: Tamar Shohat and Jerome I. Rotter Eran Leltersdort Head, Ward A D.C.Rao Director, Center for Research, Division of Biostatistics Prevention and Treatment of Washington University School of Atherosclerosis Medicine Division of Medicine 660 South Euclid Avenue, Box 8067 Hadassah University Hospital St Louis, MO 63110 91120 Jerusalem USA Israel Co-author: George P. Vogler Killian Robinson Department of Cardiology Jan Nilsson The Cleveland Clinic Foundation Department of Medicine 95500 Euclid Avenue King Gustaf Vth Research Institute Cleveland, OH 44195 Karolinska Hospital USA P.O. Box 60004 Co-authors: Kok Soon Tan and Ian M. S-104 01 Stockholm Graham Sweden Co-author: Anna Hultgardh Nilsson Jerome I. RoHer Director, Division of Medical Genetics SSB 372, Departments of Medicine Jan Chr. Pedersen and Pediatrics Department of Medical Genetics Cedars-Sinai Medical Center Ulleval Hospital 8700 Beverly Boulevard P.O. Box 1036, Blindern Los Angeles, CA 90048 N-0135 Oslo 3 USA Norway Co-authors: Leslie J. Raffel and Co-author: Kare Berg Tamar Shohat x LIST OF CONTRIBUTORS Gustav Schonfeld Roger R. Williams Director, Division of Atherosclerosis Cardiovascular Genetics Research Nutrition and Lipid Research Clinic Washington University School of The University of Utah, Room 161 Medicine 410 Chipeta Way, Research Park Campus Box 8046, 660 S. Euclid Salt Lake City, UT 84108 Avenue USA St Louis, MO 63110-1093 Co-authors: M. Catherine USA Schumacher, Paul N. Hopkins, Co-author: Elaine S. Krul Steven C. Hunt, Lily L. Wu, Sandra J. Hasstedt, Barry M. Stults, Joan L. Ware, Brent C. James, G. Michael Vincent, Michael Pratt, Barbara D. Latham and Victor Bulyzhenkov Masashl Shloml Yuklo Yamorl Institute for Experimental Animals Graduate School of Human and Kobe University School of Medicine Environmental Studies 7-5-1 Kusunoki-cho Kyoto University Chuo-ku Yoshida-nihonmatsu-cho Kobe 650 Sakyoku Japan Kyoto 606 Co-author: Yoshio Watanabe Japan xi
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