Human Genome Epidemiology, 2nd Edition

The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace. With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.

Auteur

Muin J. Khoury, MD, PhD, is Director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention. He is an Adjunct Professor of Epidemiology at the Rollins School of Public Health at Emory University and an Associate in the Department of Epidemiology at Johns Hopkins Bloomberg School of Public Health. Sara R. Bedrosian is a health communications specialist for the Office of Public Health Genomics at the Centers for Disease Control and Prevention in Atlanta, Georgia. Marta Gwinn, MD, MPH, is a medical epidemiologist for the Office of Public Health Genomics at the Centers for Disease Control and Prevention. She currently leads OPHG's Knowledge Integration effort, which promotes using the tools of human genome epidemiology to translate genomic research results into information for clinical and public health applications. Julian P. T. Higgins, PhD, is a Senior Statistician at the MRC Biostatistics Unit at the Institute of Public Health in Cambridge, United Kingdom. He headed the UK HuGENet Coordinating Centre in Cambridge from its inception, and is a major contributor to The Cochrane Collaboration. John P. A. Ioannidis, MD, PhD, is Professor and Chairman of the Department of Hygiene and Epidemiology at the University of Ioannina School of Medicine in Ioannina, Greece and a collaborating scientist at the Biomedical Research Institute, Foundation for Research and Technology - Hellas. Julian Little, MA, PhD, holds the Canada Research Chair in Human Genome Epidemiology, and is a Professor and Chair of the Department of Epidemiology and Community Medicine at the University of Ottawa in Canada.

Résumé
The first edition of Human Genome Epidemiology, published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace. With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century.

Contenu

PART I: Fundamentals of human genome epidemiology revisited 1. Human genome epidemiology: The road map revisited Muin J. Khoury, Sara R. Bedrosian, Marta L. Gwinn, Julian P. T. Higgins, John P. A. Ioannidis, and Julian Little 2. Principles of analysis of germline genetics Jesus Gonzalez-Bosquet and Stephen Chanock 3. The public health genomics enterprise Philippa Brice and Ron Zimmern 4. Navigating the evolving knowledge of human genetic variation in health and disease Marta L. Gwinn and Wei Yu PART II: Methods and approaches for data collection, analysis and integration 5. The global emergence of epidemiological biobanks: Opportunities and challenges Paul Burton, Isabel Fortier, and Bartha Knoppers 6. Case-control and cohort studies in the age of genome-wide associations Teri Manolio 7. The emergence of networks in human genome epidemiology: Challenges and opportunities Daniela Seminara, Muin J. Khoury, Thomas R. O'Brien, Teri Manolio, Marta L. Gwinn, Julian Little, Julian P. T. Higgins, Jonine L. Bernstein, Paolo Boffetta, Melissa Bondy, Molly S. Bray, Paul E. Brenchley, Patricia A. Buf?er, Juan Pablo Casas, Anand P. Chokkalingam, John Danesh, George Davey Smith, Siobhan Dolan, Ross Duncan, Nelleke A. Gruis, Mia Hashibe, David Hunter, Marjo-Riitta Jarvelin, Beatrice Malmer, Demetrius M. Maraganore, Julia A. Newton-Bishop, Elio Riboli, Georgia Salanti, Emanuela Taioli, Nic Timpson, André G. Uitterlinden, Paolo Vineis, Nick Wareham, Deborah M. Winn, Ron Zimmern, and John P. A. Ioannidis 8. Design and analysis issues in genome-wide association studies Duncan Thomas 9. The challenge of assessing complex gene-gene and gene-environment interactions Peter Kraft and David Hunter 10. STrengthening the REporting of Genetic Association Studies (STREGA) - An extension of the STROBE statement Julian Little, Julian P.T. Higgins, John P.A. Ioannidis, David Moher, France Gagnon, Erik von Elm, Muin J. Khoury, Barbara Cohen, George Davey-Smith, Jeremy Grimshaw, Paul Scheet, Marta Gwinn, Robin E. Williamson, Guang Yong Zou, Kim Hutchings, Candice Y. Johnson, Valerie Tait, Miriam Wiens, Jean Golding, Cornelia van Duijn, John McLaughlin, Andrew Paterson, George Wells, Isabel Fortier, Matthew Freedman, Maja Zecevic, Richard King, Claire Infante-Rivard, Alex Stewart, and Nick Birkett 11. Integration of the evidence on gene-disease associations: Methods of HuGE reviews Julian P.T. Higgins and Julian Little 12. Genome-wide association studies, field synopses and the development of the knowledge base on genetic variation and human disease Muin J. Khoury, Lars Bertram, Paolo Boffetta, Adam S.Butterworth, Stephen J. Chanock, Siobhan M. Dolan, Isabel Fortier, Montserrat Garcia-Closas, Marta L. Gwinn, Julian P. T. Higgins, A. Cecile J.W. Janssens, James Ostell, Ryan P. Owen, Roberta A. Pagon, Timothy R. Rebbeck, Nathaniel Rothman, Jonine L. Bernstein , Paul R. Burton, Harry Campbell, Anand P. Chokkalingam, Helena Furberg, Julian Little, Thomas R. O'Brien, Daniela Seminara, Paolo Vineis, Deborah M. Winn, Wei Yu, and John P.A. Ioannidis PART III: Case studies: Cumulative assessment of the role of human genome variation in specific diseases 13. Colorectal cancer Harry Campbell, Steven Hawken, Evropi Theodoratou, Alex Demarsh, Kimberley Hutchings, Candice Y. Johnson, Lindsey Masson, Linda Sharp, Valerie Tait, Julian Little 14. Childhood leukemias Anand P. Chokkalingam and Patricia A. Buffler 15. Bladder cancer Jonine D. Figueroa, Montserrat Garcia-Closas, and Nathanial Rothman 16. Type 2 diabetes Mark McCarthy and Eleftheria Zeggini 17. Osteoporosis André G. Uitterlinden, Joyce B.J. van Meurs, and Fernando Rivadeneira 18. Preterm birth Siobhan M. Dolan 19. Coronary heart disease Adam S. Butterworth, Julian P.T. Higgins, Nadeem Sarwar, and John Danesh 20. Schizophrenia Lars Bertram **PART IV: Applications of epidemiologic methods for using…