Analysis of Genetic Association Studies

Analysis of Genetic Association Studies is both a graduate level textbook in statistical genetics and genetic epidemiology, and a reference book for the analysis of genetic association studies. Students, researchers, and professionals will find the topics

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Gang Zheng r Yaning Yang r Xiaofeng Zhu Robert C. Elston

Analysis of Genetic Association Studies

r

Gang Zheng Bethesda, MD, USA

Yaning Yang School of Management, Dept. Statistics & Finance University of Science & Technology of China Hefei, Anhui, People’s Republic of China

Xiaofeng Zhu School of Medicine, Dept. Epidemiology & Biostatistics Case Western Reserve University Cleveland, OH, USA Robert C. Elston School of Medicine, Dept. Epidemiology & Biostatistics Case Western Reserve University Cleveland, OH, USA

Statistics for Biology and Health Series Editors A. Tsiatis M. Gail Department of Statistics National Cancer Institute North Carolina State University Bethesda, MD, USA Raleigh, NC, USA K. Krickeberg Le Châtelet W. Wong Manglieu, France Department of Statistics Stanford University J. Samet Stanford, CA, USA Department of Preventive Medicine Keck School of Medicine University of Southern California Los Angeles, CA, USA

ISSN 1431-8776 Statistics for Biology and Health ISBN 978-1-4614-2244-0 e-ISBN 978-1-4614-2245-7 DOI 10.1007/978-1-4614-2245-7 Springer New York Dordrecht Heidelberg London Library of Congress Control Number: 2011946278 © Springer Science+Business Media, LLC 2012 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, LLC, 233 Spring Street, New York, NY 10013, USA), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use in this publication of trade names, trademarks, service marks, and similar terms, even if they are not identified as such, is not to be taken as an expression of opinion as to whether or not they are subject to proprietary rights. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com)

To my mother: GZ To my parents, Min and Qiutong: YY To family: Fang, Luke, Jimmy and Helen: XZ To all my numerous former students and family: RCE

Preface

We started writing this book two years ago targeting it not only as a graduate level text book in statistical genetics and genetic epidemiology, especially for genetic association studies, but also as a reference book for the analysis of genetic association studies. As a text book for graduate students in statistics, biostatistics, genetics and genetic epidemiology, in addition to covering various topics in this subject, we wanted to cover details of the various derivations as well as illustrate detailed stepby-step applications through both real examples and simulations. We hope this book can serve as a bridge from taking classes in statistical genetics and genetic epidemiology to conducting independent research in this area. As a reference, we wanted to cover a broad range of topics in genetic association stu