Association study of polymorphisms in interferon-γ receptor genes with the risk of pulmonary tuberculosis

Shin,Joong‑Gon; Park,Byung Lae; Kim,Lyoung Hyo; Namgoong,Suhg; Kim,Ji On; Chang,Hun Soo; Park,Jong Sook; Jang,An Soo; Park,Sung Woo; Kim,Do Jin; Kim,Ki Up; Kim,Yang Gee; Uh,Soo‑Taek; Seo,Ki Hyun; Kim,Young Hoon; Koh,Insong; Park,Choon Sik; Shin,Hyoung Doo

doi:10.3892/mmr.2015.3544

Association study of polymorphisms in interferon-γ receptor genes with the risk of pulmonary tuberculosis

Authors:
- Joong‑Gon Shin
- Byung Lae Park
- Lyoung Hyo Kim
- Suhg Namgoong
- Ji On Kim
- Hun Soo Chang
- Jong Sook Park
- An Soo Jang
- Sung Woo Park
- Do Jin Kim
- Ki Up Kim
- Yang Gee Kim
- Soo‑Taek Uh
- Ki Hyun Seo
- Young Hoon Kim
- Insong Koh
- Choon Sik Park
- Hyoung Doo Shin
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Affiliations: Department of Life Science, Sogang University, Seoul 121‑742, Republic of Korea, Department of Genetic Epidemiology, SNP Genetics, Inc., Seoul 121‑742, Republic of Korea, Soonchunhyang Medical Science Research Institute, Soonchunhyang University Bucheon Hospital, Bucheon, Gyeonggi‑do 420‑020, Republic of Korea, 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, Division of Allergy and Respiratory Medicine, Soonchunhyang University Seoul Hospital, Seoul 140-743, Republic of Korea, Division of Allergy and Respiratory Medicine, Soonchunhyang University, Cheonan Hospital, Cheonan, Hoseo 30240, Republic of Korea, Department of Physiology, Hanyang University College of Medicine, Seoul 133-791, Republic of Korea
Published online on: March 24, 2015 https://doi.org/10.3892/mmr.2015.3544
Pages: 1568-1578

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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.

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