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Enhancer RNA transcription pinpoints functional genetic variants linked to asthma
Sarah K Sasse1, Amber Dahlin2, Lynn Sanford3
1Department of Medicine, National Jewish Health, Denver, CO, USA.
Nature Communications
|March 31, 2025
Summary
Single nucleotide polymorphisms (SNPs) in enhancer RNA (eRNA) regions are linked to asthma. A specific SNP, rs258760, protects against asthma by affecting air pollution signaling and glucocorticoid receptor regulation.
Area of Science:
- Genetics
- Environmental Health
- Molecular Biology
Background:
- Bidirectional enhancer RNA (eRNA) transcription is a key cellular response to environmental factors and glucocorticoids.
- Understanding the genetic basis of asthma involves investigating variations in regulatory elements like eRNAs.
Purpose of the Study:
- To explore whether single nucleotide polymorphisms (SNPs) in eRNA-transcribing regions contribute to genetic variations associated with asthma.
- To identify novel genetic variants within eRNA regions that influence asthma risk.
Main Methods:
- Multivariate regression modeling with permutation-based significance thresholding was applied to a large clinical cohort.
- Functional analysis was performed to assess the impact of identified SNPs on gene regulation, specifically the glucocorticoid receptor gene.
Main Results:
- Thirty-five SNPs in eRNA regions were associated with asthma, including rs258760 (OR=0.95, P=5.04E-03).
- The SNP rs258760 was found to disrupt an aryl hydrocarbon receptor (AHR) response element, impacting the transcriptional regulation of the glucocorticoid receptor gene.
- The protective role of rs258760 against asthma was validated using UK Biobank data.
Conclusions:
- eRNA signatures serve as a valuable tool for discovering functional genetic variants related to complex diseases like asthma.
- A novel link between air pollution, glucocorticoid signaling, and asthma has been established through the identified SNP rs258760.
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