Evidence map›Paper›PMID 42571015›Full record

ArticleRespiratory research2026

A SNP altering the MUC5AC mucin structure is increased in idiopathic pulmonary fibrosis together with the MUC5B SNP.

Sergio Trillo-Muyo, Anna Ermund, Brendan Dolan, Levent M Akyürek, Jesper M Magnusson, Gunnar C Hansson

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Article in Respiratory research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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6 authors.

Sergio Trillo-MuyoDepartment of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden. sergio.muyo@medkem.gu.se.
Anna ErmundDepartment of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Brendan DolanDepartment of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.
Levent M AkyürekDepartment of Clinical Pathology, Institute of Biomedicine, Sahlgrenska University Hospital, Gothenburg, Sweden.
Jesper M MagnussonDepartment of Respiratory Medicine, Institute of Medicine, Sahlgrenska University Hospital, Gothenburg, Sweden.
Gunnar C HanssonDepartment of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden. gunnar.hansson@medkem.gu.se.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe gel-forming mucins MUC5B and MUC5AC constitute the main structural components of mucus in the respiratory system where MUC5AC is known to form nets. The MUC5B (rs35705950) Single Nucleotide Polymorphism (SNP) has been shown to increase the risk for Idiopathic Pulmonary Fibrosis (IPF). The MUC5AC SNP rs878913005, common in European populations, results in an Arg1201Trp substitution, resulting in more stabilized secreted mucin nets. Here we investigate the association of rs878913005 with the development of IPF and the presence of the two mucins in IPF diagnostic honeycomb cysts.

methodsWe compared patient groups using whole genome sequences from the UK-Biobank for the SNPs in MUC5AC and MUC5B mucin genes. Lung tissue from IPF patients were immunostained for these mucins.

resultsThe MUC5AC SNP shows a significant 1.49x increased frequency in IPF patients relative to controls (p < 0.0001) and an odds ratio of 2.09. The well-known IPF-associated SNP in the MUC5B promoter (rs35705950) has a stronger linkage to IPF when combined with the MUC5AC SNP. These two SNPs are located on the same chromosome and are in linkage disequilibrium (r

conclusionA genetic variant with more stable MUC5AC nets in peripheral thin airways may increase the risk of IPF.

Indexed as

Idiopathic Pulmonary FibrosisMucin 5ACMucin-5BPolymorphism, Single NucleotideAgedCase-Control StudiesFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedMUC5AC protein, humanMUC5B protein, humanMucin 5ACMucin-5BHoneycomb cystsMUC5BMucinMucusPulmonary fibrosis

Identifiers

PMID42571015
PMCPMC13453088

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