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Chunk #20 — Results — Sputum eQTLs in COPD Candidate Loci

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Genetics of sputum gene expression in chronic obstructive pulmonary disease.
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SNPs in IREB2 were both cis-eQTLs for that gene (Table 4, Figure 2) and were associated with COPD in the combined GWAS (rs13180, p = 5.0e-7). Even though some of the significant eQTL SNPs for CHRNA5 mapped to IREB2 (bin 3a), SNPs in all 3 bins were not in LD with the IREB2 eQTL SNPs (Figure 3b). No SNPs were significantly associated with AGPHD1, PSMA4, or CHRNB4 gene expression. For the other two COPD GWAS loci, HHIP and FAM13A, we found no significant cis-eQTL SNPs within 50 kb, so we expanded the assessment of cis-eQTLs to all SNPs within 200 kb of the TSS of each gene. There were no significant cis-eQTLs within 200 kb of either HHIP or FAM13A.