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Single-Cell cis-Mendelian Randomization Reveals Cell-Specific Genetic Mechanisms Underlying Atopic Dermatitis.

Charalabos Antonatos¹, Yiannis Vasilopoulos¹

¹Laboratory of Genetics, Section of Genetics, Cell Biology and Development, Department of Biology, University of Patras, 26504 Patras, Greece.

International Journal of Molecular Sciences

|March 14, 2026

Summary

Atopic dermatitis (AD) risk genes show diverse, cell-specific effects. Understanding these immune cell-specific genetic links offers new therapeutic targets for AD.

Keywords:

Mendelian Randomization atopic dermatitis eQTL eczema single cell transcriptome-wide association study

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Area of Science:

Genetics
Immunology
Dermatology

Background:

Atopic dermatitis (AD) is a chronic inflammatory skin disease with complex genetic underpinnings.
Immune system dysregulation is central to AD pathogenesis.

Purpose of the Study:

To identify cell-specific genetic drivers of atopic dermatitis.
To resolve genetically mediated transcriptional effects in distinct immune cell types relevant to AD.

Main Methods:

Integrated single-cell expression quantitative trait loci (eQTLs) from 14 immune cell types with AD genome-wide association study (GWAS) data.
Employed a two-sample Mendelian Randomization (MR) framework.
Utilized a multi-step prioritization strategy and intersected with bulk transcriptomic data.

Main Results:

Identified 303 significant cell-specific gene-trait associations, with limited overlap across cell types.
Prioritized 35 high-confidence genes across 14 immune cell types.
Found limited concordance between single-cell and whole blood eQTLs, highlighting the importance of cell-specific analysis.

Conclusions:

AD genetic risk is mediated by diverse, cell-specific mechanisms across immune cell states.
Identified immune-relevant and druggable genes, such as IL2RA, with distinct cell-specific effects.
Findings have implications for developing targeted therapeutic interventions for atopic dermatitis.