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Updated: Feb 7, 2026
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Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
Published on: September 4, 2011
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Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis
Wei-Jie Guan1,2, Jia-Cheng Li3, Fang Liu3
1State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou Medical University, Guangzhou 510120, China.
Journal of Thoracic Disease
|July 13, 2018
Summary
Genetic mutations impairing airway host-defense are linked to bronchiectasis development. Genetic screening can identify these underlying causes, aiding in diagnosis and understanding disease pathogenesis.
Area of Science:
- Pulmonary Medicine
- Genetics
- Respiratory Diseases
Background:
- Defective airway host-defense mechanisms, including altered mucus properties and ciliary dysfunction, are implicated in bronchiectasis pathogenesis.
- This study investigates the role of genetic mutations in airway host-defense pathways in the development of bronchiectasis.
Purpose of the Study:
- To determine if genetic mutations associated with defective airway host-defense are implicated in the pathogenesis of bronchiectasis.
Main Methods:
- Next-generation sequencing (NGS) was performed on peripheral blood samples from 192 bronchiectasis patients and 100 healthy controls.
- Systematic screening of 32 frequently reported bronchiectasis-associated genes was conducted.
- Variant distribution frequency and mutation pathogenicity were analyzed.
Main Results:
- 162 rare variants were identified in bronchiectasis patients and 85 in healthy subjects.
- A significant proportion of variants were associated with cystic fibrosis transmembrane receptor (CFTR), epithelial sodium channel, and primary ciliary dyskinesia genes.
- Biallelic CFTR variants were found in four bronchiectasis patients, and certain biallelic variants correlated with increased disease severity.
Conclusions:
- Genetic mutations leading to impaired host-defense may play a role in bronchiectasis pathogenesis.
- Genetic screening offers a valuable tool for identifying underlying causes of bronchiectasis.
- Molecular findings from genetic screening complement conventional etiologic assessments.
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