Journal Article

Genome-Wide Association Study of Airway Wall Thickening in a Korean Chronic Obstructive Pulmonary Disease Cohort

Ki Yeol Lee, So Hyeon Bak, Dankyu Yoon, Soriul Kim, Do Yeon Ko, Chol Shin, Sungho Won, Ah Ra Do, Jeeyoung Kim, Woo Jin Kim

2022

Overview

Airway wall thickening (AWT) plays an important pathophysiological role in airway diseases such as chronic obstructive pulmonary disease (COPD). There are only a few studies on the genetic components contributing to AWT in the Korean population. This study aimed to identify AWT-related single-nucleotide polymorphisms (SNPs) using a genome-wide association study (GWAS). We performed GWAS for AWT using the CODA and KUCOPD cohorts. Thereafter, a meta-analysis was performed. Airway wall thickness was measured using automatic segmentation software. The AWT at an internal perimeter of 10 mm (AWT-Pi10) was calculated by the square root of the theoretical airway wall area using the full-width-half-maximum method. We identified a significant SNP (rs11648772, p = 1.41 × 10−8) located in LINC02127, near SALL1. This gene is involved in the inhibition of epithelial–mesenchymal transition in glial cells, and it affects bronchial wall depression in COPD patients. Additionally, we identified other SNPs (rs11970854, p = 1.92 × 10−6; rs16920168, p = 5.29 × 10−6) involved in airway inflammation and proliferation and found that AWT is influenced by these genetic variants. Our study helps identify the genetic cause of COPD in an Asian population and provides a potential basis for treatment.

• Publisher: MDPI AG,MDPI
• Subject: Airway management / airway wall thickening; chronic obstructive pulmonary disease; genetic variants; genome-wide association study; single-nucleotide polymorphism / Analysis / Asthma / Bronchitis / Care and treatment / Chronic obstructive pulmonary disease / Cohort Studies / computer software / Datasets / Development and progression / Gene expression / genes / Genetic aspects / Genetic diversity / Genome-wide association studies / Genome-Wide Association Study / Genomes / Genotype & phenotype / Glial cells / Humans / inflammation / Lung diseases / Lung diseases, Obstructive / Mesenchyme / Meta-analysis / Methods / Obstructive lung disease / Physiology, Pathological / Population / Population studies / Pulmonary Disease, Chronic Obstructive / Quality control / Regression analysis / Republic of Korea / Respiratory tract diseases / Segmentation / Single-nucleotide polymorphism / Software / Tomography, X-Ray Computed