title: Association study of polymorphisms in interferon-γ receptor genes with the risk of pulmonary tuberculosis.
abstract: Tuberculosis (TB) is an infectious disease caused by mycobacterium, which most commonly affects the lungs. The adaptive immune response in Mycobacterium tuberculosis is predominantly mediated by the interferon-γ (IFN-γ) signaling pathway, which is regulated by IFN-γ receptors (IFNGR). IFN-γ activates the transcription of a number of genes that are important in immune responses, thus the appropriate function of IFNGR appears to be important in host defense against mycobacteria. In the present study, 22 genetic variants in IFNGR1 and IFNGR2 were genotyped in 673 patients and 592 normal controls to investigate the association between IFNGR1 and IFNGR2 polymorphisms and the risk of TB. Statistical analyses revealed that four genetic variants in IFNGR1, rs9376269, rs9376268, rs9376267 and rs56251346 were marginally associated with the risk of TB (P = 0.02-0.04), while other single nucleotide polymorphisms in IFNGR1 and IFNGR2 did not exhibit any associations. However, the significance of the four genetic variants rs9376269, rs9376268, rs9376267 and rs56251346 was eliminated following a multiple testing correction of the data (P>0.05). The present results revealed that certain genetic variants in IFNGR genes may be associated with TB development, which may be useful preliminary data for future investigation.
authors: Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors: Joong-Gon
authors: JG
authors: Shin
authors: Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul 121‑742, Republic of Korea.
authors: Byung Lae
authors: BL
authors: Park
authors: Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors: Lyoung Hyo
authors: LH
authors: Kim
authors: Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors: Suhg
authors: S
authors: Namgoong
authors: Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors: Ji On
authors: JO
authors: Kim
authors: Soonchunhyang Medical Science Research Institute, Soonchunhyang University Bucheon Hospital, Bucheon, Gyeonggi‑do 420‑020, Republic of Korea.
authors: Hun Soo
authors: HS
authors: Chang
authors: Genome Research Center for Allergy and Respiratory Diseases, Division of Allergy and Respiratory Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Gyeonggi‑do 420‑020, Republic of Korea.
authors: Jong Sook
authors: JS
authors: Park
authors: Genome Research Center for Allergy and Respiratory Diseases, Division of Allergy and Respiratory Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Gyeonggi‑do 420‑020, Republic of Korea.
authors: An Soo
authors: AS
authors: Jang
authors: Genome Research Center for Allergy and Respiratory Diseases, Division of Allergy and Respiratory Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Gyeonggi‑do 420‑020, Republic of Korea.
authors: Sung Woo
authors: SW
authors: Park
authors: Genome Research Center for Allergy and Respiratory Diseases, Division of Allergy and Respiratory Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Gyeonggi‑do 420‑020, Republic of Korea.
authors: Do Jin
authors: DJ
authors: Kim
authors: Division of Allergy and Respiratory Medicine, Soonchunhyang University Seoul Hospital, Seoul 140-743, Republic of Korea.
authors: Ki Up
authors: KU
authors: Kim
authors: Division of Allergy and Respiratory Medicine, Soonchunhyang University Seoul Hospital, Seoul 140-743, Republic of Korea.
authors: Yang Gee
authors: YG
authors: Kim
authors: Division of Allergy and Respiratory Medicine, Soonchunhyang University Seoul Hospital, Seoul 140-743, Republic of Korea.
authors: Soo-Taek
authors: ST
authors: Uh
authors: Division of Allergy and Respiratory Medicine, Soonchunhyang University, Cheonan Hospital, Cheonan, Hoseo 30240, Republic of Korea.
authors: Ki Hyun
authors: KH
authors: Seo
authors: Division of Allergy and Respiratory Medicine, Soonchunhyang University, Cheonan Hospital, Cheonan, Hoseo 30240, Republic of Korea.
authors: Young Hoon
authors: YH
authors: Kim
authors: Department of Physiology, Hanyang University College of Medicine, Seoul 133-791, Republic of Korea.
authors: Insong
authors: I
authors: Koh
authors: Genome Research Center for Allergy and Respiratory Diseases, Division of Allergy and Respiratory Medicine, Soonchunhyang University Bucheon Hospital, Bucheon, Gyeonggi‑do 420‑020, Republic of Korea.
authors: Choon Sik
authors: CS
authors: Park
authors: Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea.
authors: Hyoung Doo
authors: HD
authors: Shin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009169:Mycobacterium tuberculosis / Q000235:genetics / Q000276:immunology / Q000472:pathogenicity; D020641:Polymorphism, Single Nucleotide; D017471:Receptors, Interferon / Q000235:genetics* / Q000276:immunology; D014397:Tuberculosis, Pulmonary / Q000235:genetics* / Q000276:immunology / Q000382:microbiology; D000096743:Interferon gamma Receptor
chemical_list: D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor; C086185:IFNGR2 protein, human