title: Polymorphisms of interferon-gamma and interferon-gamma receptor 1 genes and non-tuberculous mycobacterial lung diseases.
abstract: Interferon-gamma (IFN-gamma) is crucial for host defense against mycobacterial infections. Recent studies have indicated that IFN-gamma and IFN-gamma receptor 1 (IFN-gammaR1) gene polymorphisms are associated with susceptibility to pulmonary tuberculosis. The aim of this study was to test the hypothesis that IFN-gamma and IFN-gammaR1 gene polymorphisms influence susceptibility to lung disease caused by non-tuberculous mycobacteria (NTM). Seventy-six patients with the nodular bronchiectatic form of NTM lung disease (37 patients with Mycobacterium avium complex infection and 39 patients with Mycobacterium abscessus infection) and 80 controls were included. Polymorphisms of the IFN-gamma gene at position +874 were determined by the amplification refractory mutation system (ARMS) polymerase chain reaction assay and IFN-gammaR1 gene at positions -611, -270, -56 and +95 was genotyped by matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry using genomic DNA. IFN-gammaR1 -270 and +95 polymorphisms were not present in any of the patients or controls. The patients with NTM lung disease showed no significant difference from controls in genotype and allele frequencies of the IFN-gamma +874 and IFN-gammaR1 -611 and -56 polymorphisms. The IFN-gamma +874 and IFN-gammaR1 -611 and -56 polymorphisms do not appear to be responsible for host susceptibility to NTM lung disease, at least in the Korean population.
authors.affiliation: Division of Pulmonary and Critical Care Medicine, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, Korea.
authors.forename: Jung Hye
authors.initials: JH
authors.lastname: Hwang
authors.forename: Eun Joo
authors.initials: EJ
authors.lastname: Kim
authors.forename: Won-Jung
authors.initials: WJ
authors.lastname: Koh
authors.forename: Su Yeon
authors.initials: SY
authors.lastname: Kim
authors.forename: Shin-Hye
authors.initials: SH
authors.lastname: Lee
authors.forename: Gee Young
authors.initials: GY
authors.lastname: Suh
authors.forename: O Jung
authors.initials: OJ
authors.lastname: Kwon
authors.forename: Chang Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Yongick
authors.initials: Y
authors.lastname: Ji
authors.forename: Miyeon
authors.initials: M
authors.lastname: Kang
authors.forename: Duk-Hwan
authors.initials: DH
authors.lastname: Kim
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D007371:Interferon-gamma / Q000235:genetics*; D008171:Lung Diseases / Q000235:genetics* / Q000382:microbiology; D008297:Male; D008875:Middle Aged; D009165:Mycobacterium Infections, Nontuberculous / Q000235:genetics*; D015270:Mycobacterium avium-intracellulare Infection / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D017471:Receptors, Interferon / Q000235:genetics*; D000096743:Interferon gamma Receptor
chemical_list: D007371:Interferon-gamma; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor