PAI-1 genotype and regulation of airway PAI-1 in vivo: relationships with patterns of airway gene expression during illness

Document Type

Conference Proceeding

Publication Date

2-1-2025

Publication Title

J Allergy Clin Immunol

Keywords

Allergy, Immunology

Abstract

Rationale: A functional promoter polymorphism (4G4G) in the Plasminogen Activator Inhibitor-1 (PAI-1) gene is associated with lower lung function, and more frequent asthma exacerbations. Genotype relationships with airway PAI-1 expression and asthma endotypes remain understudied. Methods: We included a subset of children aged 6–17 years with exacerbation-prone asthma who had baseline and illness nasal lavage samples, from the urban asthma MUPPITS-1 study. We examined the relationship of genotype with PAI-1 expression in bulk nasal lavage cells. eQTL analysis evaluated the association between gene expression and the PAI-1 genotype in illness samples. The top 3500 eQTL genes, by beta value, were selected for weighted gene co-expression network analysis (WCGNA). Results: We included 165 participants, 42% female, mean age 10.8 years with the following PAI-1 genotypes: 76 5G5G, 64 5G4G, and 25 4G4G. There were no differences by genotype in age, sex, race, ethnicity or BMI. In MUPPITS-1 baseline visits, PAI-1 airway gene expression was lower (P<0.002) in 4G4G than 5G5G or 4G5G participants. Conversely, during viral illnesses PAI-1 expression levels were highest in the 4G4G group (p<0.02). WCGNA analysis of the illness samples revealed 4 modules with increased expression, (protein metabolism, autophagy, immune/TLR signaling) and 3 that were decreased (epithelial development, ribosome/translation and DNA helicase activity) in the 4G4G genotype. Conclusions: The promoter polymorphism is associated with lower baseline airway PAI-1 expression, contrasting with prior reported associations with higher PAI-1 plasma levels. Genotype-specific increased PAI-1 expression during viral illnesses, and increased TLR signaling, may be relevant for worse asthma outcomes associated with the genotype.

Volume

155

Issue

2

First Page

AB279

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