The success of genome-wide association studies (GWAS) to identify risk loci of complex diseases is now well-established. One
persistent major hurdle is the cost of those studies, which make them beyond the reach of most research groups. Performing
GWAS on pools of DNA samples may be an effective strategy to reduce the costs of these studies. In this study, we performed
pooling-based GWAS with more than 550,000 SNPs in two case-control cohorts consisting of patients with Type II diabetes (T2DM)
and with chronic rhinosinusitis (CRS). In the T2DM study, the results of the pooling experiment were compared to individual
genotypes obtained from a previously published GWAS. TCF7L2 and HHEX SNPs associated with T2DM by the traditional GWAS were
among the top ranked SNPs in the pooling experiment. This dataset was also used to refine the best strategy to correctly identify
SNPs that will remain significant based on individual genotyping. In the CRS study, the top hits from the pooling-based GWAS
located within ten kilobases of known genes were validated by individual genotyping of 1,536 SNPs. Forty-one percent (598
out of the 1,457 SNPs that passed quality control) were associated with CRS at a nominal
P value of 0.05, confirming the potential of pooling-based GWAS to identify SNPs that differ in allele frequencies between
two groups of subjects. Overall, our results demonstrate that a pooling experiment on high-density genotyping arrays can accurately
determine the minor allelic frequency as compared to individual genotyping and produce a list of top ranked SNPs that captures
genuine allelic differences between a group of cases and controls. The low cost associated with a pooling-based GWAS clearly
justifies its use in screening for genetic determinants of complex diseases.