Aspirin-exacerbated respiratory disease is associated with variants in filaggrin, epithelial integrity, and cellular interactions.

ABSTRACT:

Background

Previous studies have determined that up to 6% of patients with aspirin-exacerbated respiratory disease (AERD) have family history of AERD, indicating a possible link with genetic polymorphisms. However, whole exome sequencing (WES) studies of such associations are currently lacking.

Objectives

We sought to examine whether WES can identify pathogenic variants associated with AERD.

Methods

Diagnoses of AERD were confirmed in patients with nasal polyps and asthma. WES was performed using an Illumina sequencing platform. Human Phenotype Ontology terms were used to define the patients' phenotypes. Exomiser was used to annotate, filter, and prioritize possible disease-causing genetic variants.

Results

Of 39 patients with AERD, 41% reported a family histor

SUBMITTER: Jerschow E 

PROVIDER: S-EPMC10838899 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature