Clinical trial NCT02832843: Genome-Wide Association Study in Patients With Nontuberculous Mycobacterial Lung Disease
Official title: Elucidation of Genetic Susceptibility of Patients With Nontuberculous Mycobacterial Lung Disease Using Genome-Wide Association Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mycobacterium Infections, Nontuberculous
Lead sponsor: Seoul National University Hospital
Sponsor class: OTHER
First posted: 2016-07-14
Enrollment: 2808
Sex: ALL
Minimum age (years): 18
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with NTM lung diseases and healthy control

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.

Eligibility criteria: 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

Primary outcomes:
measure: Finding of single nucleotide polymorphisms (SNPs) associated with the risk of NTM lung disease compared with controls
timeFrame: Baseline
Secondary outcomes:
measure: Finding of SNPs associated with the risk of severe NTM lung disease compared with controls
timeFrame: Baseline
measure: Finding of SNPs associated with the risk of severe NTM lung disease compared with mild NTM lung disease
timeFrame: Baseline
measure: Finding of SNPs associated with the risk of Mycobacterium avium complex lung disease versus M. abscessus lung disease versus controls
timeFrame: Baseline
Other outcomes:
Locations:
city: Seoul
country: Korea, Republic of
facility: Seoul National University Hospital
Study officials:
affiliation: Seoul National University Hospital
name: Jae-Joon Yim, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
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