Genetic association studies

Abstract

We review the rationale behind and discuss methods of design and analysis of genetic association studies. There are similarities between genetic association studies and classic epidemiological studies of environmental risk factors but there are also issues that are specific to studies of genetic risk factors such as the use of particular family-based designs, the need to account for different underlying genetic mechanisms, and the effect of population history. Association differs from linkage (covered elsewhere in this series) in that the alleles of interest will be the same across the whole population. As with other types of genetic epidemiological study, issues of design, statistical analysis, and interpretation are very important.