Document Type

Article

Publication Date

4-1-2025

Identifier

DOI: 10.1186/s12920-025-02125-4; PMCID: PMC11963311

Abstract

BACKGROUND: Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has varied presentations from asymptomatic to death. Efforts to identify factors responsible for differential COVID-19 severity include but are not limited to genome wide association studies (GWAS) and transcriptomic analysis. More recently, variability in host epigenomic profiles have garnered attention, providing links to disease severity. However, whole epigenome analysis of the respiratory tract, the target tissue of SARS-CoV-2, remains ill-defined.

RESULTS: We interrogated the nasal methylome to identify pathophysiologic drivers in COVID-19 severity through whole genome bisulfite sequencing (WGBS) of nasal samples from COVID-19 positive individuals with severe and mild presentation of disease. We noted differential DNA methylation in intergenic regions and low methylated regions (LMRs), demonstrating the importance of distal regulatory elements in gene regulation in COVID-19 illness. Additionally, we demonstrated differential methylation of pathways implicated in immune cell recruitment and function, and the inflammatory response. We found significant hypermethylation of the FUT4 promoter implicating impaired neutrophil adhesion in severe disease. We also identified hypermethylation of ELF5 binding sites suggesting downregulation of ELF5 targets in the nasal cavity as a factor in COVID-19 phenotypic variability.

CONCLUSIONS: This study demonstrated DNA methylation as a marker of the immune response to SARS-CoV-2 infection, with enhancer-like elements playing significant roles. It is difficult to discern whether this differential methylation is a predisposing factor to severe COVID-19, or if methylation differences occur in response to disease severity. These differences in the nasal methylome may contribute to disease severity, or conversely, the nasal immune system may respond to severe infection through differential immune cell recruitment and immune function, and through differential regulation of the inflammatory response.

Journal Title

BMC Med Genomics

Volume

18

Issue

1

First Page

62

Last Page

62

MeSH Keywords

Humans; COVID-19; DNA Methylation; SARS-CoV-2; Epigenome; Male; Female; Middle Aged; Promoter Regions, Genetic; Nasal Mucosa; Hospitalization; Severity of Illness Index; Adult; Aged; Epigenesis, Genetic

PubMed ID

40170038

Keywords

COVID-19; Epigenome; Methylation; SARS-CoV-2

Comments

Grants and funding

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Publisher's Link: https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02125-4

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