An Overview of Genome-Wide Association Studies

Abstract

Genome-wide association study (GWAS) is a powerful study design to identify genetic variants of a trait and, in particular, detect the association between common single-nucleotide polymorphisms (SNPs) and common human diseases such as heart disease, inflammatory bowel disease, type 2 diabetes, and psychiatric disorders. The standard strategy of population-based case-control studies for GWAS is illustrated in this chapter. We provide an overview of the concepts underlying GWAS, as well as provide guidelines for statistical methods performed in GWAS.

Keywords: Case-control; Common disease common variant hypothesis; Genome-wide association studies; Genotyping; Linkage disequilibrium; SNPs; Two-stage analysis.