Fundamentals Of Genetic Epidemiology

This text integrates the principles, methods and approaches of epidemiology and genetics in the study of disease aetiology. The authors define the central theme of genetic epidemiology as the study of the role of genetic factors and their interaction with environmental factors in the occurrence of disease in populations.

This book brings together leading experts to provide an introduction to genetic epidemiology that begins with a primer in human molecular genetics through all the standard methods in population genetics and genetic epidemiology required for an adequate grounding in the field.

This book covers the statistical models and methods that are used to understand human genetics, following the historical and recent developments of human genetics. Starting with Mendel’s first experiments to genome-wide association studies, the book describes how genetic information can be incorporated into statistical models to discover disease genes. All commonly used approaches in statistical genetics (e.g. aggregation analysis, segregation, linkage analysis, etc), are used, but the focus of the book is modern approaches to association analysis. Numerous examples illustrate key points throughout the text, both of Mendelian and complex genetic disorders. The intended audience is statisticians, biostatisticians, epidemiologists and quantitatively- oriented geneticists and health scientists wanting to learn about statistical methods for genetic analysis, whether to better analyze genetic data, or to pursue research in methodology. A background in intermediate level statistical methods is required. The authors include few mathematical derivations, and the exercises provide problems for students with a broad range of skill levels. No background in genetics is assumed.

Arising from firm foundations laid by mathematical population genetics, clinical genetics, and statistical epidemiology, genetic epidemiology attempts to identify the many components of risk attributable to genes, environments, and interactions, and the course of its research can follow many diverse paths. In Genetic Epidemiology, the success of genome-wide association studies in their identification of hundreds of disease susceptibility loci has inspired renowned experts to contribute thorough methodologies, which aim to bring together bioinformaticians, geneticists, clinicians, statisticians, and epidemiologists in the study of this vital field. The volume opens with chapters covering the basics; however, it quickly moves on to coverage of more specialist topics such as twin studies, Mendelian randomization, genetic association studies, more advanced areas, as well as case studies. As a part of the highly successful Methods in Molecular BiologyTM series, this work provides the detailed description of the application and analysis of the most commonly employed methods that are necessary for a firm grounding in the field. Authoritative and cutting-edge, Genetic Epidemiology aims to provide a basic framework for crucial interdisciplinary communication and understanding suited to newcomers to the field as well as experienced researchers and graduate level students.

This well-organized and clearly written text has a unique focus on methods of identifying the joint effects of genes and environment on disease patterns. It follows the natural sequence of research, taking readers through the study designs and statistical analysis techniques for determining whether a trait runs in families, testing hypotheses about whether a familial tendency is due to genetic or environmental factors or both, estimating the parameters of a genetic model, localizing and ultimately isolating the responsible genes, and finally characterizing their effects in the population. Examples from the literature on the genetic epidemiology of breast and colorectal cancer, among other diseases, illustrate this process. Although the book is oriented primarily towards graduate students in epidemiology, biostatistics and human genetics, it will also serve as a comprehensive reference work for researchers. Introductory chapters on molecular biology, Mendelian genetics, epidemiology, statistics, and population genetics will help make the book accessible to those coming from one of these fields without a background in the others. It strikes a good balance between epidemiologic study designs and statistical methods of data analysis.

Genetic epidemiology plays a key role in discovering genetic factors influencing health and disease, and in understanding how genes and environmental risk factors interact. There is growing interest in this field within public health, with the goal of translating the results into promoting health and preventing disease in both families and populations. This textbook provides graduate students with a working knowledge of genetic epidemiology research methods. Following an overview of the field, the book reviews key genetic concepts, provides an update on relevant genomic technology, including genome-wide chips and DNA sequencing, and describes methods for assessing the magnitude of genetic influences on diseases and risk factors. The book focuses on research study designs for discovering disease susceptibility genes, including family-based linkage analysis, candidate gene and genome-side association studies, assessing gene-environment interactions and epistasis, studies of Non-Mendelian inheritance, and statistical analyses of data from these studies. Specific applications of each research method are illustrated using a variety of diseases and risk factors relevant to public health, and useful web-based genetic analysis software, human reference panels, and repositories, that can greatly facilitate this work, are described.

Genetic epidemiology is the study of the role of genes and environments on markers of health and disease risk in populations. It emerged as a mainstream discipline in the early 1980s, arising from firm foundations laid by mathematical population genetics, clinical genetics, and statistical epidemiology. Though genetic epidemiology attempts to identify the many components of risk attributable to genes, environments, and interactions between these two factors, the course of the research towards this goal can follow many diverse paths. In the last few years, the success of genome-wide association studies in their identification of hundreds of disease susceptibility loci has brought this specialist field to the forefront of biomedical research. Advances in molecular genetics will soon offer affordable means to measure or observe study participant's genetic material at the sequence level as well as more detailed functional data, such as gene expression.