Lung eQTLs to help reveal the molecular underpinnings of asthma.

This figure is a flow diagram illustrating the study design and analysis workflow starting from lung tissue samples. The process splits into two parallel pipelines: a DNA path involving SNP genotyping, quality control, and imputation, and an mRNA path involving expression profiling, quality control, and adjustments for smoking, age, and gender. These paths converge to identify within-cohort expressional QTLs (eQTLs) for meta-analysis across three cohorts, while the adjusted expression profile is separately used for Bayesian Networks and Key Driver Analysis (KDA).

Figure (a) consists of a genomic browser track and four Manhattan-style plots showing $-\log_{10} P$ values for asthma association (GABRIEL consortium) and lung eQTLs for *ORMDL3* (blue), *GSDMB* (green), and *GSDMA* (red) on chromosome 17q21. Figure (b) contains two boxplots showing standardized *GSDMA* expression levels across genotypes (CC, CT, TT) for SNPs rs3859192 ($P=3.55\text{E-}151$) and rs7216389 ($P=8.78\text{E-}25$). In both boxplots, expression levels decrease as the number of T alleles increases.

This figure evaluates the expression of GSDMA and GSDMB in primary human airway epithelial cells. Panel (a) is a bar chart showing significantly higher mRNA expression of GSDMA compared to GSDMB on a $\text{Log}_{10}$ scale. Panel (b) displays Western blot bands showing detectable GSDMA protein expression and negligible GSDMB expression, normalized to $\beta$-tubulin. Panel (c) consists of immunohistochemistry images showing GSDMA staining in both basal and apical cells of the airway epithelium compared to an isotype control.

This figure consists of three Q-Q plots (a, b, and c) comparing $-\log_{10}(p\text{-values})$ of different SNP subsets against reference groups. In all three panels, the observed data points deviate upward from the red diagonal identity line, indicating an enrichment of lower p-values. The x-axes represent the $-\log_{10}(p\text{-values})$ of all Gabriel SNPs (a, b) or Gabriel eSNPs (c), while the y-axes represent the $-\log_{10}(p\text{-values})$ of Gabriel eSNPs (a) or eSNPs of canonical asthma genes (b, c).

This figure is a Bayesian network diagram illustrating the relationships between key driver genes (KDA), canonical genes, and other genes. KDA genes (CXCR3, CCL2, SOCS3, CXCL2, CD200R1, and IL1B) are highlighted in yellow, canonical genes are in blue, and other genes are in grey, with directed edges indicating the network connections. The visualization maps the interactions and influence of the top 6 KDA genes on their nearest neighboring genes.