Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

ABSTRACT:

Background

Defective airway host-defense (e.g., altered mucus properties, ciliary defects) contributes to the pathogenesis of bronchiectasis. This study aims to determine whether genetic mutations associated with defective airway host-defense are implicated in the pathogenesis of bronchiectasis.

Methods

Based on the systematic screening of 32 frequently reported bronchiectasis-associated genes, we performed next-generation sequencing (NGS) on peripheral blood samples from 192 bronchiectasis patients and 100 healthy subjects. The variant distribution frequency and pathogenicity of mutations were analyzed.

Results

We identified 162 rare variants in 192 bronchiectasis patients, and 85 rare variants among 100 healthy subjects. Among bronchiectasis patients, 25 (15.4%), 11

SUBMITTER: Guan WJ 

PROVIDER: S-EPMC6006054 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature