Evidence map›Paper›PMID 40071665›Full record

ArticlePediatric pulmonology2025

The Frequency and Potential Implications of HFE Genetic Variants in Children With Cystic Fibrosis.

Leslie Huang, HuiChuan J Lai, Katryn N Furuya, Nicholas J Antos, Fadi Asfour, Kathleen L Boyne, Michelle Howenstine, Michael J Rock, Gregory S Sawicki, Jonathan M Gaffin and 2 more

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In one paragraph

Article in Pediatric pulmonology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

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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

1 citing paper in PubMed.

  1. Article
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

12 authors.

Leslie HuangDepartment of Pediatrics, University of Wisconsin - Madison, Madison, Wisconsin, USA.
HuiChuan J LaiDepartment of Pediatrics, University of Wisconsin - Madison, Madison, Wisconsin, USA.ORCID http://orcid.org/0000-0001-8084-3988
Katryn N FuruyaDepartment of Pediatrics, University of Wisconsin - Madison, Madison, Wisconsin, USA.
Nicholas J AntosDepartment of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Fadi AsfourDepartment of Pediatrics, University of Utah, Salt Lake City, Utah, USA.
Kathleen L BoyneDepartment of Pediatrics, Northwestern University, Chicago, Illinois, USA.
Michelle HowenstineDepartment of Pediatrics, Indiana University, Indianapolis, Indiana, USA.
Michael J RockDepartment of Pediatrics, University of Wisconsin - Madison, Madison, Wisconsin, USA.ORCID http://orcid.org/0000-0001-9665-1737
Gregory S SawickiDepartment of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0003-3356-709X
Jonathan M GaffinDepartment of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0003-2213-4504
Elizabeth A WortheyDepartment of Genetics, University of Alabama-Birmingham, Birmingham, Alabama, USA.
Philip M FarrellDepartment of Pediatrics, University of Wisconsin - Madison, Madison, Wisconsin, USA.ORCID http://orcid.org/0000-0003-0036-7016

Funding

Newborn Screening, Malnutrition and Lung Disease in Children with Cystic FibrosisR01DK072126 · NIDDK · UNIVERSITY OF WISCONSIN-MADISON · PI LAI, HUICHUAN J · 2006 to 2015
$4.3M
Early Childhood Diet, Growth, Gut Microbiome And Lung Health in Cystic FibrosisR01DK109692 · NIDDK · UNIVERSITY OF WISCONSIN-MADISON · PI LAI, HUICHUAN J · 2016 to 2021
$3.8M
Early Childhood Diet, Growth, Gut Microbiome and Lung Health in Cystic FibrosisR56DK109692 · NIDDK · UNIVERSITY OF WISCONSIN-MADISON · PI LAI, HUICHUAN J · 2015 to 2015
$150k
NIDDK NIH HHS R01 DK072126NIDDK NIH HHS R01 DK109692NIDDK NIH HHS R56 DK109692This study was supported by the NIH (R01 DK072126, R56 DK109692, and R01DK109692), Cystic Fibrosis Foundation (LAI14A0, LAI15A0, LAI17A0, and WORTHE19A0), and The Legacy of Angels Foundation (now the Rosenau Family Research Foundation). L.H. was supported by a Shapiro Summer Research award from the University of Wisconsin School of Medicine and Public Health and a CF Foundation Traineeship Award (HUANG21H0).
6 · The paper itself

Abstract

backgroundGenetic modifiers have been identified that increase the risks of lung disease and other complications, such as diabetes in people with cystic fibrosis (CF). Variants in the hemochromatosis gene (HFE) were reported in a study of adults to be associated with worse lung disease.

objectivesTo ascertain the frequency of HFE variants, particularly C282Y (c.845G > A) and H63D (c.187C > G) and to determine if they are associated with variations in the onset and early severity of CF lung disease as well as abnormalities in iron status.

designWe studied with whole genome sequencing and clinical outcome measures in a cohort of 104 children with CF at 5-6 years old who were previously found to show an association between aggregated genetic modifiers and an earlier onset and a more severe lung disease phenotype.

resultsIn our cohort, 23% have H63D and 11% have C282Y. Lung function at age 6 years and Pseudomonas aeruginosa infections did not differ by HFE variants, but having C282Y was associated with more pulmonary exacerbations in the first 6 years of life. Three patients have H63D/C282Y genotype, and all showed phenotypic expression of hemochromatosis with abnormal iron indices.

conclusionOur study revealed that the presence of HFE variant C282Y in people with CF may lead to more severe lung disease manifestations beginning in early childhood. There is a risk of hemochromatosis in CF patients with two HFE variants, and thus they should be followed for evidence of iron overload.

Indexed as

Cystic FibrosisHemochromatosis ProteinChildChild, PreschoolFemaleGenetic VariationGenotypeHumansMalePhenotypePseudomonas InfectionsHemochromatosis ProteinHFE protein, humancystic fibrosis, whole‐genome sequencinggenetic counselinghereditary hemochromatosisiron metabolismliver disease

Identifiers

PMID40071665
PMCPMC11898569

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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 OpenQuestion graph.