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

Seoul National University Hospital2,808 enrolled

Overview

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

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 Type

OBSERVATIONAL

Enrollment

2,808

Conditions

Mycobacterium Infections, Nontuberculous

Eligibility

Sex: ALLMin age: 18 YearsMax age: 75 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

Seoul National University Hospital

Seoul, South Korea

Outcomes

Primary Outcomes

Finding of single nucleotide polymorphisms (SNPs) associated with the risk of NTM lung disease compared with controls

To identify SNPs related to NTM lung disease using logistic regression after controlling for confounders (GWAS statistical significance threshold, P \< 5.00\*E-08)

Time frame: Baseline

Secondary Outcomes

Finding of SNPs associated with the risk of severe NTM lung disease compared with controls

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)

Time frame: Baseline

Finding of SNPs associated with the risk of severe NTM lung disease compared with mild NTM lung disease

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)

Time frame: Baseline

Finding of SNPs associated with the risk of Mycobacterium avium complex lung disease versus M. abscessus lung disease versus controls

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)

Time frame: Baseline

Data from ClinicalTrials.gov

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