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Chunk #21 — RESULTS — Integrating results from the GWAS and gene expression data analysis

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The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.
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The evidence for a genetic association with each of these 193 genes individually is weak, as expected given that the original GWAS uncovered no genome-wide significant associations and that we are considering the evidence of association at only one SNP for each gene. Yet, while the proportion of GWAS P-values that are smaller than the nominal threshold of 0.05 among all cis eQTLs is 5.3% (as expected for a well-calibrated test), we find a significant enrichment (9.3%; hypergeometric P = 0.014) of P-values meeting this threshold for the cis eQTL SNPs associated with the 193 genes. We also observe that the GWAS P-values for the cis eQTL SNPs of 117 (60.6%) of the 193 genes (hypergeometric P < 0.002; Supplementary data, Table S6) are smaller than the genome-wide median P-value of 0.50.