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

Sponsor
Seoul National University Hospital (Other)
Overall Status
Completed
CT.gov ID
NCT02832843
Collaborator
(none)
2,808
Enrollment
1
Location
38.7
Actual Duration (Months)
72.5
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Actual Enrollment :
    2808 participants
    Observational Model:
    Case-Control
    Time Perspective:
    Cross-Sectional
    Official Title:
    Elucidation of Genetic Susceptibility of Patients With Nontuberculous Mycobacterial Lung Disease Using Genome-Wide Association Study
    Actual Study Start Date :
    Jul 11, 2016
    Actual Primary Completion Date :
    Nov 20, 2017
    Actual Study Completion Date :
    Oct 3, 2019

    Arms and Interventions

    Arm Intervention/Treatment
    NTM lung disease

    Patients with NTM lung disease satisfying American Thoracic Society guidelines
    Healthy control

    The age-, sex-matched control subjects without pulmonary diseases

    Outcome Measures

    Primary Outcome Measures

    1. 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

    1. 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)

    2. 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)

    3. 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)

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years to 75 Years
    Sexes Eligible for Study:
    All
    Accepts 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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Seoul National University Hospital Seoul Korea, Republic of 110-744

    Sponsors and Collaborators

    • Seoul National University Hospital

    Investigators

    • Principal Investigator: Jae-Joon Yim, MD, PhD, Seoul National University Hospital

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    Responsible Party:
    Jae-Joon Yim, Professor, Seoul National University Hospital
    ClinicalTrials.gov Identifier:
    NCT02832843
    Other Study ID Numbers:
    • H-1605-111-763
    First Posted:
    Jul 14, 2016
    Last Update Posted:
    Dec 13, 2019
    Last Verified:
    Dec 1, 2019
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Additional relevant MeSH terms:
    Mycobacterium Infections
    Mycobacterium Infections, Nontuberculous
    Lung Diseases

    Study Results

    No Results Posted as of Dec 13, 2019