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An Integrated Genomic and Transcriptomic Analysis Reveals Distinct Molecular Features Associated with Mild-to-moderate Atopic Dermatitis

Hu, T.; Todberg, T.; Skov, L.; Litman, T.; Hoof, I.; Rosa, J. C. d.

2023-04-17 dermatology
10.1101/2023.04.12.23288462 medRxiv
Show abstract

Atopic dermatitis (AD) is a common skin disorder, characterized by impaired skin barrier function and cutaneous inflammation. The pathophysiology of AD is incompletely understood, and has considerable genetic contributions. To obtain a detailed molecular understanding of AD, we integrated the genomic, skin transcriptomic, and clinical measurements from 30 AD and 30 healthy control (HC) subjects. We found that the AD group had mild-to-moderate disease severity and only showed slightly increased genetic risk compared with HC. When comparing within the AD group, we found that the lesional skin of patients with increased genetic risk was characterized by a possible "self-protection" mechanism, including elevation of the anti-inflammatory cytokine IL-34, activation of fibroblasts, wound healing, and the complement system. We hypothesize that this mechanism may contribute to halting further progression of AD.

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