Genome-wide association studies in diverse populations

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Abstract
Genome-wide association (GWA) studies have identified large numbers of genetic variants that contribute to disease risk. Most GWA studies have been performed primarily in populations of European descent. Phenotypes differ in prevalence across populations, and risk variants differ in frequency, linkage-disequilibrium patterns and effect-size across populations. Diverse populations are therefore required for fully characterizing risk variants. For a given population, both intrinsic population-genetic properties and the properties of genomic resources affect the utility of tag SNPs and the performance of genotype-imputation methods. Population-genetic modelling provides a basis for examining GWA phenomena in diverse populations and for testing the potential of new statistical methods for improving GWA in diverse populations. A combination of population-genetic modelling, statistical methods targeted to diverse populations and new genomic resources will help to address challenges involved in extending GWA to diverse populations.