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Article

Assessing the MUC5B promoter variant in a large cohort of systemic sclerosis-associated interstitial lung disease.

RMD open - 12 Aug 2025

Rosa-Baez Carlos, Rangel-Pelaez Carlos, Rodriguez-Martin Inmaculada, Kerick Martin, Guillen-Del-Castillo Alfredo, Simeon-Aznar Carmen P, Callejas José Luis, Voskuyl Alexandre E, Kreuter Alexander, Distler Oliver, Proudman Susanna M, Nikpour Mandana, Hunzelmann Nicolas, De Vries-Bouwstra Jeska K, Herrick Ariane L, Allanore Yannick, Beretta Lorenzo, Mayes Maureen D, Denton Christopher P, Assassi Shervin, Martin Javier, Acosta-Herrera Marialbert

Abstract excerpt

OBJECTIVE: The common gain-of-function variant rs35705950, located in the promoter of MUC5B gene, has been strongly associated with interstitial lung diseases (ILDs) of different aetiology, such as idiopathic pulmonary fibrosis (IPF) and rheumatoid arthritis-associated ILD (RA-ILD). In this study, we aimed to investigate the association of this variant and its nearby single nucleotide polymorphisms (SNPs) in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40803819
DOI: 10.1136/rmdopen-2025-005754
PMCID: PMC12352244

Genes

MUC5B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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