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

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

Detailed Description
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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.

Official Title
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Elucidation of Genetic Susceptibility of Patients With Nontuberculous Mycobacterial Lung Disease Using Genome-Wide Association Study

Conditions
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Mycobacterium Infections, Nontuberculous

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 75 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| NTM lung disease<br>Patients with NTM lung disease satisfying American Thoracic Society guidelines | |
| Healthy control<br>The age-, sex-matched control subjects without pulmonary diseases | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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) | Baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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) | 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) | 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) | Baseline |