Linkage disequilibrium and whole‐genome association studies

Abstract Complex diseases affect a substantial proportion of the human population and are caused by multiple genetic and environmental effects. The association study is a means of identifying genetic variation that may be involved in complex disease etiology. The existence of linkage disequilibrium (nonrandom association of alleles) across the human genome can be used to reduce the number of variants needed to successfully correlate with phenotypic traits. We discuss the current status and problems inherent in performing whole genome association studies to analyze complex diseases.