Table Of ContentGenetci 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
