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. 2024 Mar 14;111(4):636–653. doi: 10.1016/j.ajhg.2024.02.012

Figure 5.

Figure 5

Co-localization of mQTL (for cg01996125), eQTL for ACVR1B, and lung function GWAS signal in the chromosome 12q13.13 region

(A) Plots of smoking EWAS (beta and p values) by effect direction for this region.

(B) Plot of p values for cg01996125 mQTL, ACVR1B eQTL, and FEV1/FVC ratio GWAS showing co-localization of all three association signals.

(C) Plot of the association of rs7962469 (FEV1/FVC ratio risk allele G) with all CpGs in the ACVR1B region.

(D) Distribution of cg01996125 methylation and ACVR1B expression by smoking status and rs7962469 genotype. Beta values represent the average across all individuals (smokers and non-smokers). Upward arrowheads (blue) indicate DNAm values were higher in smokers for a given CpG compared to in non-smokers, while downward arrowheads (red) indicate DNAm values were lower in smokers.