Mapping Genetic Susceptibility to Stenosis in the Proximal Airway.

ABSTRACT:

Objectives

Recent translational scientific efforts in subglottic stenosis (SGS) support a disease model where epithelial alterations facilitate microbiome displacement, dysregulated immune activation, and localized fibrosis. Yet despite recent advances, the genetic basis of SGS remains poorly understood. We sought to identify candidate risk genes associated with an SGS phenotype, investigate their biological function, and identify the cell types enriched for their expression.

Methods

The Online Mendelian Inheritance in Man (OMIM) database was queried for single gene variants associated with an SGS phenotype. The functional intersections and molecular roles of the identified genes were explored using pathway enrichment analysis (PEA) computational methods. Cellular localizati

SUBMITTER: Sharif K 

PROVIDER: S-EPMC10593092 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature