Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.

doi:10.1172/jci.insight.178258

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Article

Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.

JCI insight - 2 Apr 2024

Virolainen Samuel J, Satish Latha, Biagini Jocelyn M, Chaib Hassan, Chang Wan Chi, Dexheimer Phillip J, Dixon Michael R, Dunn Katelyn, Fletcher David, Forney Carmy, Granitto Marissa, Hestand Matthew S, Hurd Makenna, Kauffman Kenneth, Lawson Lucinda, Martin Lisa J, Peña Loren Dm, Phelan Kieran J, Shook Molly, Weirauch Matthew T, Khurana Hershey Gurjit K, Kottyan Leah C

Abstract excerpt

Loss-of-function (LoF) variants in the filaggrin (FLG) gene are the strongest known genetic risk factor for atopic dermatitis (AD), but the impact of these variants on AD outcomes is poorly understood. We comprehensively identified genetic variants through targeted region sequencing of FLG in children participating in the Mechanisms of Progression of Atopic Dermatitis to Asthma in Children cohort. Twenty FLG LoF...

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PMID: 38564302
DOI: 10.1172/jci.insight.178258
PMCID: PMC11141906

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