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Meta-analysis of atopic dermatitis in 1,094,060 individuals identifies new risk loci, and sub-analysis characterizes the loci with disease severity and onset

Pasanen, A.; Sliz, E.; Huilaja, L.; FinnGen, ; Estonian Biobank Research Team, ; Reimann, E.; Magi, R.; Laisk, T.; Tasanen, K.; Kettunen, J.

2022-12-12 dermatology
10.1101/2022.12.08.22283257 medRxiv
Show abstract

Atopic dermatitis (AD) is a common inflammatory skin disease highly attributable to genetic factors. Here, we report results from a genome-wide meta-analysis of AD in 37,541 cases and 1,056,519 controls with data from the FinnGen project, the Estonian Biobank, the UK Biobank, the EAGLE Consortium, and the BioBank Japan. We detected 77 independent AD-associated loci of which 10 were novel. The associated loci showed enrichment in various immune regulatory processes. We further performed subgroup analyses of mild and severe AD, and of early and late-onset AD, with data from the FinnGen project. 55 of the 79 tested variants in the associated loci showed larger effect estimates for severe than mild AD as determined through administered treatment. The age of onset, as determined by the first hospital visit with AD diagnosis, was lower in patients with particular AD-risk alleles. Our findings add to the knowledge of the genetic background of AD and may underlay the development of new therapeutic strategies.

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