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

NCT ID: NCT02832843

Last Updated: 2019-12-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

2808 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-07-11

Study Completion Date

2019-10-03

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.

Conditions

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Mycobacterium Infections, Nontuberculous

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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NTM lung disease

Patients with NTM lung disease satisfying American Thoracic Society guidelines

No interventions assigned to this group

Healthy control

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

No interventions assigned to this group

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
Minimum Eligible Age

18 Years

Maximum Eligible Age

75 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Seoul National University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Jae-Joon Yim

Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Jae-Joon Yim, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Seoul National University Hospital

Locations

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Seoul National University Hospital

Seoul, , South Korea

Site Status

Countries

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South Korea

References

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Park YS, Lee CH, Lee SM, Yang SC, Yoo CG, Kim YW, Han SK, Shim YS, Yim JJ. Rapid increase of non-tuberculous mycobacterial lung diseases at a tertiary referral hospital in South Korea. Int J Tuberc Lung Dis. 2010 Aug;14(8):1069-71.

Reference Type BACKGROUND
PMID: 20626955 (View on PubMed)

Yim JJ, Kim HJ, Kwon OJ, Koh WJ. Association between microsatellite polymorphisms in intron II of the human Toll-like receptor 2 gene and nontuberculous mycobacterial lung disease in a Korean population. Hum Immunol. 2008 Sep;69(9):572-6. doi: 10.1016/j.humimm.2008.06.003. Epub 2008 Jul 3.

Reference Type BACKGROUND
PMID: 18602432 (View on PubMed)

Kim RD, Greenberg DE, Ehrmantraut ME, Guide SV, Ding L, Shea Y, Brown MR, Chernick M, Steagall WK, Glasgow CG, Lin J, Jolley C, Sorbara L, Raffeld M, Hill S, Avila N, Sachdev V, Barnhart LA, Anderson VL, Claypool R, Hilligoss DM, Garofalo M, Fitzgerald A, Anaya-O'Brien S, Darnell D, DeCastro R, Menning HM, Ricklefs SM, Porcella SF, Olivier KN, Moss J, Holland SM. Pulmonary nontuberculous mycobacterial disease: prospective study of a distinct preexisting syndrome. Am J Respir Crit Care Med. 2008 Nov 15;178(10):1066-74. doi: 10.1164/rccm.200805-686OC. Epub 2008 Aug 14.

Reference Type BACKGROUND
PMID: 18703788 (View on PubMed)

Lee AR, Lee J, Choi SM, Seong MW, Kim SA, Kim M, Chae KO, Lee JS, Yim JJ. Phenotypic, immunologic, and clinical characteristics of patients with nontuberculous mycobacterial lung disease in Korea. BMC Infect Dis. 2013 Nov 25;13:558. doi: 10.1186/1471-2334-13-558.

Reference Type BACKGROUND
PMID: 24274658 (View on PubMed)

Kim J, Seong MW, Kim EC, Han SK, Yim JJ. Frequency and clinical implications of the isolation of rare nontuberculous mycobacteria. BMC Infect Dis. 2015 Jan 9;15:9. doi: 10.1186/s12879-014-0741-7.

Reference Type BACKGROUND
PMID: 25572753 (View on PubMed)

Kwak N, Lee CH, Lee HJ, Kang YA, Lee JH, Han SK, Yim JJ. Non-tuberculous mycobacterial lung disease: diagnosis based on computed tomography of the chest. Eur Radiol. 2016 Dec;26(12):4449-4456. doi: 10.1007/s00330-016-4286-6. Epub 2016 Mar 5.

Reference Type BACKGROUND
PMID: 26945763 (View on PubMed)

Hill AV. Evolution, revolution and heresy in the genetics of infectious disease susceptibility. Philos Trans R Soc Lond B Biol Sci. 2012 Mar 19;367(1590):840-9. doi: 10.1098/rstb.2011.0275.

Reference Type BACKGROUND
PMID: 22312051 (View on PubMed)

Sung J, Cho SI, Lee K, Ha M, Choi EY, Choi JS, Kim H, Kim J, Hong KS, Kim Y, Yoo KY, Park C, Song YM. Healthy Twin: a twin-family study of Korea--protocols and current status. Twin Res Hum Genet. 2006 Dec;9(6):844-8. doi: 10.1375/183242706779462822.

Reference Type BACKGROUND
PMID: 17254419 (View on PubMed)

Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol. 2010 Dec;34(8):816-34. doi: 10.1002/gepi.20533.

Reference Type BACKGROUND
PMID: 21058334 (View on PubMed)

Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet. 2009 Jun;5(6):e1000529. doi: 10.1371/journal.pgen.1000529. Epub 2009 Jun 19.

Reference Type BACKGROUND
PMID: 19543373 (View on PubMed)

1000 Genomes Project Consortium; Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. A map of human genome variation from population-scale sequencing. Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534.

Reference Type BACKGROUND
PMID: 20981092 (View on PubMed)

Ritchie MD, Hahn LW, Roodi N, Bailey LR, Dupont WD, Parl FF, Moore JH. Multifactor-dimensionality reduction reveals high-order interactions among estrogen-metabolism genes in sporadic breast cancer. Am J Hum Genet. 2001 Jul;69(1):138-47. doi: 10.1086/321276. Epub 2001 Jun 11.

Reference Type BACKGROUND
PMID: 11404819 (View on PubMed)

Other Identifiers

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H-1605-111-763

Identifier Type: -

Identifier Source: org_study_id