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. 2022 Feb 16;12(4):jkac041. doi: 10.1093/g3journal/jkac041

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© The Author(s) 2022. Published by Oxford University Press on behalf of Genetics Society of America.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Fig. 4. — Comparing CpG-specific associations with IBD SNPs in blood vs ileum. a) Frequency of CpG sites that are associated with previously identified IBD SNPs in discovery cohort at FDR < 0.05. In total, 454 associations are considered. b) Effect sizes of 454 SNP-CpG associations compared in CD cases vs controls in blood. x-axis shows the effect sizes in CD cases (n = 164) and y-axis shows the effect sizes for the same associations in controls (n = 74) (c) Effect sizes of 370 SNP-CpG associations found in blood are compared to effect sizes observed in ileum. The nominally significant associations in ileum (P < 0.05) are marked in maroon. (D) Effect sizes of 269 SNP-CpG associations compared across the disease groups in ileum. The x-xis shows mQTL effect sizes in CD cases (n = 17) and y-axis shows effect sizes for the same associations in controls (n = 23). Maroon points indicate nominally significant (P < 0.05) interactions between SNP and disease group, suggesting differences in strength and/or direction of SNP-CpG association for cases vs controls.