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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02832843

Enrollment

2808

Registered

2016-07-14

Start date

2016-07-11

Completion date

2019-10-03

Last updated

2019-12-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Mycobacterium Infections, Nontuberculous

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Years to 75 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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 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 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)

Countries

South Korea

Outcome results