Association studies provide a highly efficient paradigm for identifying novel genetic loci that influence the risk of disease, and recent technological advances have led to the discovery via association of many novel complex disease susceptibility loci. This chapter describes the principles underlying association studies, and provides an overview of statistical approaches to their analysis, including preliminary analysis, and single-locus and multipoint tests for association. The issues of statistical power and appropriate study design are also discussed. The theory and techniques described throughout the chapter are illustrated with specific reference to the field of cancer; however they may equally be applied to association studies for any complex disease.
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