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Chunk #14 — Results — Sputum eQTL Analysis

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Genetics of sputum gene expression in chronic obstructive pulmonary disease.
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Characteristics of the 131 ECLIPSE COPD subjects in the eQTL analysis are shown in Table 1. On average, COPD subjects had a heavy smoking history and severely impaired lung function, similar to the full set of ECLIPSE GWAS cases [11]. The data analysis is outlined in Figure 1. Combining the gene expression data with genomewide SNP data and limiting analysis to potential cis-acting SNPs (within 50 kb of TSS) yielded 562,787 SNP-probe set association tests. Of these, 4315 SNP-probe set associations were significant at FDR-adjusted p<0.05 (corresponding to unadjusted p = 3.8e-4), representing 3309 unique SNPs and 1399 unique probe sets, covering 1086 genes (Table S1).