Abstract
Chapter 2 introduces a background to population genetics and genetic epidemiology. It starts with basic concepts of genetics and population genetics, including genes, alleles, genotypes, phenotypes, linkage disequilibrium, Hardy-Weinberg equilibrium, and population structure. Other terminology not covered in this chapter is discussed in later chapters. Designs of genetic association studies are then introduced, including population-based and family-based designs. Testing Hardy-Weinberg equilibrium proportions is covered. Goodness-of-fit, likelihood ratio and exact tests for deviation from Hardy-Weinberg equilibrium proportions are discussed. This chapter also discusses two types of risk measures: odds ratios and relative risks. Applying a logistic regression model for case-control data is presented.
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Zheng, G., Yang, Y., Zhu, X., Elston, R.C. (2012). Introduction to Genetic Epidemiology. In: Analysis of Genetic Association Studies. Statistics for Biology and Health. Springer, Boston, MA. https://doi.org/10.1007/978-1-4614-2245-7_2
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