CREAL: Study identifies new risk loci for eczema

CREAL: Study identifies new risk loci for eczema

News from CREAL

Researchers have identified new loci associated with atopic dermatitis by genetic association studies. To identify these new markers of susceptibility for this common, complex skin disease, the researchers performed a meta-analysis of more than 15 million genetic variants in 21,399 cases and 95,464 controls from populations of European, African, Japanese and Latino ancestry, followed by replication in 32,059 cases and 228,628 controls from 18 studies.

Atopic dermatitis or eczema is a common inflammatory skin disease affecting 15–30% of children and 5–10% of adults. Its pathogenesis involves abnormalities in the skin barrier and T cell–driven cutaneous inflammation. This disease has considerable genetic contributions, with heritability estimates of up to 90% in Europeans. The strongest known risk factors are null mutations of the FLG gene (encoding filaggrin), which causes deficiencies in epidermal barrier. Genome-wide association studies have identified 20 additional loci (ten in European populations, eight in Japanese populations and two in Chinese populations), mostly implicated in immune dysregulation.

The researchers of this study published in Nature Genetics, have identified ten new markers of risk, bringing the total number of known atopic dermatitis risk loci to 30. In particular, the new loci include candidate genes with roles in the regulation of innate host defenses and T cell function, underscoring the important contribution of (auto)immune mechanisms to atopic dermatitis pathogenesis.

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Paternoster L. et al. Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis. Nature Genetics.