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Chunk #3 — Introduction

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The impact of phenotypic and genetic heterogeneity on results of genome wide association studies of complex diseases.
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Here we investigate the impact of heterogeneity on the statistical power of GWAS. To do so, we first performed a computer simulation study. Next, we analyzed the Wellcome Trust Case-Control Consortium (WTCCC) data for DM T1D and T2D. We combined varying proportions of individual data from each of the diabetes subtypes to examine the impact of heterogeneity on the strength and statistical significance of association and compared these results with those previously found in the WTCCC study. Heterogeneity reduced the statistical power to detect genetic association and greatly decreased the estimates of risk attributed to genetic variation.