Genome-Wide Association Study in Patients With Nontuberculous Mycobacterial Lung Disease

Completed

• Conditions: Mycobacterium Infections, Nontuberculous

• Registration Number: NCT02832843
• Lead Sponsor: Seoul National University Hospital

Brief Summary

The aim of this study was to elucidate genetic susceptibility of patients with nontuberculous mycobacterial lung disease using genome-wide association study.

Detailed Description

Nontuberculous mycobacteria (NTM) are ubiquitous environmental organisms. NTM lung disease is increasing, however, genetic susceptibility of patients with the disease have not been identified. To elucidate the genetic susceptibility of NTM lung disease, the investigators perform a genome-wide association study (GWAS) including patients with NTM lung disease and healthy controls (case : control = 1 : 3). The age-, sex-matched control group will be recruited from the Korean Healthy Twin Study.

Study Timeline

• Study First Submitted: 2016-07-03
• Study Start: 2016-07-11
• Study First Submitted QC: 2016-07-11
• Study First Posted: 2016-07-14
• Primary Completion: 2017-11-20
• Study Completion: 2019-10-03
• Status Verified: 2019-12
• Last Update Submitted: 2019-12-12
• Last Update Posted: 2019-12-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 2808

Inclusion Criteria

• Case: Patients with NTM lung disease satisfying diagnostic criteria suggested by American Thoracic Society
• Control: Healthy subjects enrolled in the Korean Healthy Twin Study

Exclusion Criteria

• Case: none
• Control: 1) Subjects who have respiratory symptoms including cough and sputum 2) Subjects who have abnormalities on chest radiography

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Finding of single nucleotide polymorphisms (SNPs) associated with the risk of NTM lung disease compared with controls	Baseline	To identify SNPs related to NTM lung disease using logistic regression after controlling for confounders (GWAS statistical significance threshold, P \< 5.00\*E-08)

Secondary Outcome Measures

Name	Time	Method
Finding of SNPs associated with the risk of severe NTM lung disease compared with mild NTM lung disease	Baseline	To identify SNPs related to severe NTM lung disease compared with mild NTM lung disease using logistic regression after controlling for confounders (GWAS statistical significance threshold, P \< 5.00\*E-08)
Finding of SNPs associated with the risk of severe NTM lung disease compared with controls	Baseline	To identify SNPs related to severe NTM lung disease compared with controls using logistic regression after controlling for confounders (GWAS statistical significance threshold, P \< 5.00\*E-08)
Finding of SNPs associated with the risk of Mycobacterium avium complex lung disease versus M. abscessus lung disease versus controls	Baseline	To identify SNPs related to Mycobacterium avium complex lung disease versus M. abscessus lung disease versus controls using multinomial logistic regression after controlling for confounders (GWAS statistical significance threshold, P \< 5.00\*E-08)

Trial Locations

Locations (1)

Seoul National University Hospital; 🇰🇷 Seoul, Korea, Republic of