Evidence map›Paper›PMID 38564302›Full record

ArticleJCI insight2024

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

Samuel J Virolainen, Latha Satish, Jocelyn M Biagini, Hassan Chaib, Wan Chi Chang, Phillip J Dexheimer, Michael R Dixon, Katelyn Dunn, David Fletcher, Carmy Forney and 12 more

Open access · goldAbstract read
In one paragraph

Article in JCI insight, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
10.2field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 19 citations in OpenAlex.

  1. Article
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  5. Skin-lung axis in the atopic march: The immune link from skin to lungs.Chinese medical journal pulmonary and critical care medicine · 2025
    Review
  6. Review
  7. Review
  8. Update on the genetics of allergic diseases.The Journal of allergy and clinical immunology · 2025
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors at 2 institutions in 1 country.

Samuel J VirolainenDivision of Human Genetics and.
Latha SatishDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Jocelyn M BiaginiDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Hassan ChaibDivision of Human Genetics and.
Wan Chi ChangDivision of Asthma Research, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Phillip J DexheimerCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Michael R DixonDivision of Human Genetics and.
Katelyn DunnDivision of Human Genetics and.
David FletcherDivision of Human Genetics and.
Carmy ForneyDivision of Human Genetics and.
Marissa GranittoDivision of Human Genetics and.
Matthew S HestandPacific Biosciences, Menlo Park, California, USA.
Makenna HurdDivision of Asthma Research, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Kenneth KauffmanDivision of Human Genetics and.
Lucinda LawsonDivision of Human Genetics and.
Lisa J MartinDivision of Human Genetics and.
Loren Dm PeñaDivision of Human Genetics and.
Kieran J PhelanDivision of Asthma Research, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Molly ShookDivision of Human Genetics and.
Matthew T WeirauchDivision of Human Genetics and.
Gurjit K Khurana HersheyDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Leah C KottyanDivision of Human Genetics and.
Cincinnati Children's Hospital Medical Center · USPacific Biosciences (United States) · US

Funding

TSLP, IL-9-producing mucosal mast cells, and allergic inflammationU19AI070235 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI Gurjit K. Khurana Hershey · 2006 to 2026
$31.3M
Research Project 3: Role of Posttranslational Protein Modifications in the Pathogenesis of Ebola Virus DiseaseP01AI150585 · NIAID · UNIVERSITY OF TEXAS MED BR GALVESTON · PI BUKREYEV, ALEXANDER · 2021 to 2025
$11.3M
HLA GENE COMPLEMENTATION IN PRIMARY SJOGREN'S AND LUPUSR01AI024717 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KOTTYAN, LEAH CLAIRE, WEIRAUCH, MATTHEW TYSON · 1987 to 2025
$7.8M
Tissue Repository CoreP30AR070549 · NIAMS · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan · 2016 to 2026
$7.7M
Polygenic Risk Scores for Healthier African American FamiliesU01HG011172 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan, LISA J MARTIN · 2020 to 2026
$7.2M
Gene Regulation as a Foundation for Autoimmune Disease PreventionU01AI130830 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI WEIRAUCH, MATTHEW TYSON · 2017 to 2021
$7.2M
BIOCHEMICAL AND GENETIC ANALYSIS OF NOTCH SIGNALINGR01GM055479 · NIGMS · WASHINGTON UNIVERSITY · PI KOPAN, RAPHAEL, WEIRAUCH, MATTHEW TYSON · 1996 to 2021
$6.4M
Dynamic regulatory network models of human response to influenza virusU01AI150748 · NIAID · UNIVERSITY OF CALIFORNIA-IRVINE · PI MARAZZI, IVAN, MIRALDI, EMILY · 2020 to 2024
$5.8M
Binding of Epstein Barr Virus EBNA2 Unifies Multiple Sclerosis Genetic MechanismsR01NS099068 · NINDS · CINCINNATI CHILDRENS HOSP MED CTR · PI Leah Claire Kottyan, Matthew Tyson Weirauch · 2017 to 2026
$4.2M
Genomics of Inflammatory Bowel DiseaseR01AI148276 · NIAID · CINCINNATI CHILDRENS HOSP MED CTR · PI KOTTYAN, LEAH CLAIRE · 2019 to 2023
$3.9M
Role of TET1 in airway epithelium and childhood asthmaR01AI141569 · NIAID · UNIVERSITY OF CALIFORNIA AT DAVIS · PI JI, HONG · 2019 to 2023
$3.0M
Virus-driven human gene misregulation in diseaseR01HG010730 · NHGRI · CINCINNATI CHILDRENS HOSP MED CTR · PI WEIRAUCH, MATTHEW TYSON · 2020 to 2023
$2.7M
NHGRI NIH HHS R01 HG010730NHGRI NIH HHS U01 HG011172NIAID NIH HHS P01 AI150585NIAID NIH HHS R01 AI024717NIAID NIH HHS R01 AI141569NIAID NIH HHS R01 AI148276NIAID NIH HHS U01 AI130830NIAID NIH HHS U01 AI150748NIAID NIH HHS U19 AI070235NIAMS NIH HHS P30 AR070549NIAMS NIH HHS R01 AR073228NIDDK NIH HHS R01 DK107502NIGMS NIH HHS R01 GM055479NINDS NIH HHS R01 NS099068
6 · The paper itself

Abstract

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.

Indexed as

Dermatitis, AtopicFilaggrin ProteinsIntermediate Filament ProteinsLoss of Function MutationPhenotypeChildChild, PreschoolFemaleFood HypersensitivityGenetic Predisposition to DiseaseHumansInfantMaleProspective StudiesFilaggrin ProteinsFLG protein, humanIntermediate Filament ProteinsAllergyDermatologyGenetics

Identifiers

PMID38564302
PMCPMC11141906
OpenAlexW4393549299

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.