Document Type

Article

Publication Date

5-2026

Identifier

DOI: 10.1016/j.ygeno.2026.111235

Abstract

Eosinophils are pro-inflammatory cells that play a central role in asthmatic inflammation. However, few studies have examined their methylation profiles in asthma, all relying on microarray-based approaches. Here, an epigenome-wide association study in 183 purified eosinophil samples from the Saguenay-Lac-Saint-Jean asthma family cohort was performed using a custom sequencing panel targeting 4,609,564 CpGs in immune regulatory regions. Two CpG sites in MAEA and SLC9A2 genes, known to be involved in immune function, were significantly associated with asthma, while five additional sites showed suggestive associations. Integration with genotype data (7,829,429 variants) and expression counts (17,513 genes) identified significant quantitative trait loci-mediated regulatory effects. Two CpG sites at Chr1:6,267,177, which is a suggestive association, and Chr2:103,279,574 were linked to expression of EFNA5, GNAQ, and LIMK1, implicating them in eosinophil-driven asthma pathogenesis. This finding offers insights into the asthma's epigenetic architecture, highlighting disease-relevant loci detectable through targeted analysis of eosinophils.

Journal Title

Genomics

Volume

118

Issue

3

First Page

111235

Last Page

111235

MeSH Keywords

Humans; Asthma; Eosinophils; CpG Islands; Epigenome; DNA Methylation; Female; Male; Quantitative Trait Loci; Adult; Epigenesis, Genetic; Genome-Wide Association Study; Middle Aged; Polymorphism, Single Nucleotide

PubMed ID

41856296

Keywords

Asthma; DNA methylation; Eosinophil; Epigenome-wide association study; Methylation quantitative trait loci; Targeted bisulfite sequencing

Comments

This article is available under the Creative Commons CC-BY-NC-ND license and permits non-commercial use of the work as published, without adaptation or alteration provided the work is fully attributed.

Publisher's Link: https://linkinghub.elsevier.com/retrieve/pii/S0888-7543(26)00043-1

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