Key clinical point: Established and new atopic dermatitis (AD)-associated filaggrin loss-of-function variants are associated with increased risks for clinical AD outcomes and disruption of skin barrier integrity in lesional and nonlesional skin of children with AD.
Major finding: Twenty variants were identified, including one novel variant. The presence of one or more variants was associated with a higher risk for moderate or severe AD vs mild AD (odds ratio 2.00; corrected P = .0394), a higher Scoring AD score (corrected P = .0394), and transepidermal water loss in both lesional ( P = .018) and nonlesional ( P = .015) skin.
Study details: This study included 438 children with AD (age ≤ 2 years; gestation period ≥ 36 weeks) from the early-life Mechanisms of Progression of Atopic Dermatitis to Asthma in Children cohort without a comorbid lung condition or dependence on immunosuppression or oral steroids for a condition except asthma.
Disclosures: This study was funded by the US National Institutes of Health. Matthew S. Hestand declared being an employee and shareholder of Pacific Biosciences. The other authors declared no conflicts of interest.
Source: Virolainen SJ, Satish L, Biagini JM, et al. Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early life prospective cohort. JCI Insight. 2024 (Apr 2). doi: 10.1172/jci.insight.178258 Source