Association of filaggrin loss-of-function variants with race in children with atopic dermatitis
JAMA Dermatology Aug 06, 2019
Margolis DJ, Mitra N, Wubbenhorst B, et al. - In this prospective US cohort study, researchers comprehensively characterized and compared outcomes from targeted sequencing of filaggrin gene (FLG) loss-of-function (LoF) variants in children of African and European ancestry and the association of these variants with atopic dermatitis (AD) onset and persistence. For this investigation, they evaluated the genetic subcohort of the Pediatric Eczema Elective Registry. Participants in the study were 741 children with mild to moderate AD. In a US cohort of children with mild to moderate AD, the FLG LoF variants vary significantly in race and association with AD persistence. The conventional testing of the four variants that are frequently assessed is insufficient. Any scheduled genetic diagnostic test for AD based on variants of FLG LoF must be inclusive and not based on the variants studied most frequently.
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