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

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

in Asthma / Atopic dermatitis / Child / Child, Preschool / Children / Chromosomes / Dermatitis / Dermatitis, Atopic - genetics / Dermatitis, Atopic - pathology / Dermatology / Female / Filaggrin / Filaggrin Proteins / Food allergies / Food Hypersensitivity - genetics / Genetic diversity / Genetic Predisposition to Disease / Genetics / Haplotypes / Health risk assessment / Humans / Infant / Intermediate Filament Proteins - genetics / Loss of Function Mutation / Male / Mutation / Phenotype / Phenotypes / Prospective Studies / Risk factors / Skin diseases

2024

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

2024

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

2024

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Journal Article

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

Satish, Latha,

Kauffman, Kenneth,

Weirauch, Matthew T.,

Martin, Lisa J.,

Forney, Carmy,

Phelan, Kieran J.,

Shook, Molly,

Chang, Wan Chi,

Peña, Loren D.M.,

Lawson, Lucinda,

Virolainen, Samuel J.,

Dunn, Katelyn,

Khurana Hershey, Gurjit K.,

Hurd, Makenna,

Dixon, Michael R.,

Kottyan, Leah C.,

Dexheimer, Phillip J.,

Granitto, Marissa,

Chaib, Hassan,

Biagini, Jocelyn M.,

Hestand, Matthew S.,

Fletcher, David

2024

Overview

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 variants were identified, including 1 novel variant and 9 variants not previously associated with AD. FLG LoF variants were found in the cohort. Among these children, the presence of 1 or more FLG LoF variants was associated with moderate/severe AD compared with those with mild AD. Children with FLG LoF variants had a higher SCORing for Atopic Dermatitis (SCORAD) and higher likelihood of food allergy within the first 2.5 years of life. LoF variants were associated with higher transepidermal water loss (TEWL) in both lesional and nonlesional skin. Collectively, our study identifies established and potentially novel AD-associated FLG LoF variants and associates FLG LoF variants with higher TEWL in lesional and nonlesional skin.

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Publisher

American Society for Clinical Investigation,American Society for Clinical investigation

Subject

/ Child