Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis

Meritxell Oliva (), Mrinal K. Sarkar, Michael E. March, Amir Hossein Saeidian, Frank D. Mentch, Chen-Lin Hsieh, Fanying Tang, Ranjitha Uppala, Matthew T. Patrick, Qinmengge Li, Rachael Bogle, J. Michelle Kahlenberg, Deborah Watson, Joseph T. Glessner, Leila Youssefian, Hassan Vahidnezhad, Lam C. Tsoi, Hakon Hakonarson, Johann E. Gudjonsson, Kathleen M. Smith and Bridget Riley-Gillis ()
Additional contact information
Meritxell Oliva: AbbVie Inc.
Mrinal K. Sarkar: University of Michigan
Michael E. March: Children’s Hospital of Philadelphia
Amir Hossein Saeidian: Children’s Hospital of Philadelphia
Frank D. Mentch: Children’s Hospital of Philadelphia
Chen-Lin Hsieh: AbbVie Inc.
Fanying Tang: AbbVie Inc.
Ranjitha Uppala: University of Michigan
Matthew T. Patrick: University of Michigan
Qinmengge Li: University of Michigan
Rachael Bogle: University of Michigan
J. Michelle Kahlenberg: University of Michigan
Deborah Watson: Children’s Hospital of Philadelphia
Joseph T. Glessner: Children’s Hospital of Philadelphia
Leila Youssefian: Children’s Hospital of Philadelphia
Hassan Vahidnezhad: Children’s Hospital of Philadelphia
Lam C. Tsoi: University of Michigan
Hakon Hakonarson: Children’s Hospital of Philadelphia
Johann E. Gudjonsson: University of Michigan
Kathleen M. Smith: AbbVie Inc.
Bridget Riley-Gillis: AbbVie Inc.

Nature Communications, 2025, vol. 16, issue 1, 1-17

Abstract: Abstract Atopic dermatitis is a highly heritable and common inflammatory skin condition affecting children and adults worldwide. Multi-ancestry approaches to atopic dermatitis genetic association studies are poised to boost power to detect genetic signal and identify loci contributing to atopic dermatitis risk. Here, we present a multi-ancestry GWAS meta-analysis of twelve atopic dermatitis cohorts from five ancestral populations totaling 56,146 cases and 602,280 controls. We report 101 genomic loci associated with atopic dermatitis, including 16 loci that have not been previously associated with atopic dermatitis or eczema. Fine-mapping, QTL colocalization, and cell-type enrichment analyses identified genes and cell types implicated in atopic dermatitis pathophysiology. Functional analyses in keratinocytes provide evidence for genes that could play a role in atopic dermatitis through epidermal barrier function. Our study provides insights into the etiology of atopic dermatitis by harnessing multiple genetic and functional approaches to unveil the mechanisms by which atopic dermatitis-associated variants impact genes and cell types.

Date: 2025
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DOI: 10.1038/s41467-025-58310-7

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