What have we learned from GWAS for atopic dermatitis
2020
Abstract Genome-wide association studies (GWAS) have revealed multiple loci associated with atopic dermatitis (AD). Some have confirmed pre-existing knowledge, including the role of skin barrier and type 2 inflammation in AD pathogenesis, whilst others have provided newer insights, including evidence of auto-immunity and previously unrecognized genes controlling epidermal differentiation. The majority of risk loci are in intergenic regions for which functional mechanism(s) remain unknown; these loci require detailed molecular studies, carried out in cells and tissues of relevance to AD. Genomic findings to date account for ∼30% of AD heritability, so considerable further work is needed to fully understand individual risk.
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