Estimating in silico causal effects of DNA methylation on gene expression through genetic anchors in airway epithelium in asthma

= 236) asthma. We conducted causal mediation analyses to assess whether DNAm affects gene expression or vice versa by using an adaptive bootstrap for the joint significance test to estimate causal effects for 38,562 eQTM pairs. DNAm is a plausible cause of gene expression in 73% of pairs. Genes in these eQTM pairs were significantly enriched in immune pathways and associated with asthma phenotypes. We replicated Expression Quantitative Trait Loci (eQTL) findings in various cell types in lung tissue and eQTL and Methylation Quantitative Trait Loci (meQTL) findings in the upper airway. These results suggest DNAm as a promising target for asthma prevention and therapy.

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Publication Details

Journal
Science Advances
Published
2026-04-22
DOI
https://doi.org/10.1126/sciadv.ady3555
Primary Topic
Asthma and respiratory diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

Estimating in silico causal effects of DNA methylation on gene expression through genetic anchors in airway epithelium in asthma

Juan C. Celedón, W C W Chen, Ziyu Huang, Soyeon Kim et al.
Science Advances
Asthma and respiratory diseases
article

Estimating in silico causal effects of DNA methylation on gene expression through genetic anchors in airway epithelium in asthma

Juan C. Celedón, W C W Chen, Ziyu Huang, Soyeon Kim, Hyun Jung Park, Rebecca I. Caldino Bohn
article en

Abstract

= 236) asthma. We conducted causal mediation analyses to assess whether DNAm affects gene expression or vice versa by using an adaptive bootstrap for the joint significance test to estimate causal effects for 38,562 eQTM pairs. DNAm is a plausible cause of gene expression in 73% of pairs. Genes in these eQTM pairs were significantly enriched in immune pathways and associated with asthma phenotypes. We replicated Expression Quantitative Trait Loci (eQTL) findings in various cell types in lung tissue and eQTL and Methylation Quantitative Trait Loci (meQTL) findings in the upper airway. These results suggest DNAm as a promising target for asthma prevention and therapy.

Science AdvancesVol. 12(17)
University of Pittsburgh (US), UPMC Hillman Cancer Center (US)
National Institute of Health Sciences, National Science Foundation, National Institutes of Health, Center for Research Computing, University of Pittsburgh
Openalex Percentile: Top 9%
Asthma and respiratory diseases
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