Fig. 4.
Colocalization of rs2270401 with ERBB2 expression and DNA methylation levels for cg10374813. A LocusZoom plots of childhood onset GWAS results at the 17q locus showing the ERBB2 gene at the proximal (left) end of the locus and the co-localized eQTL (rs2270401) at the distal (right) end of the locus. The SNP (rs2270401), which colocalized with associations for childhood onset asthma, ERBB2 expression, and DNA methylation at cg10374813, is shown as a purple diamond in each of three LocusZoom plot. Upper panel: childhood onset asthma GWAS (modified from Pividori et al. 2019). Middle panel: ERBB2 eQTLs for vehicle-treated cultured AECs. The association for ERBB2 gene expression and rs2270401 for the vehicle treatment is shown in the box plot (β = − 1.16 × 10−3; 95% CI − 6.40 × 10−3, − 8.73 × 10−3). Lower panel: ERBB2 eQTLs for RV-treated AECs. Boxplots for ERBB2 gene expression by rs2270401 genotype is shown within the middle and lower LocusZoom plots. The association of ERBB2 gene expression and rs2270401 for the RV treatment is shown in the box plot (β = 0.03; 95% CI 0.04, 0.02). B Boxplots for cg1037813 meQTLs in vehicle-treated (upper panel; β = − 0.07; 95% CI − 0.07, − 0.09) and RV-treated (lower panel; β = − 0.10; 95% CI − 0.07, − 0.12) cultured AECs. C ERBB2 gene expression in vehicle-treated and RV-treated cells. P values and FDR adjusted P values (Padj) are shown in each box plot