Research Themes

2.Identification and Functional Analysis of Susceptibility Genes for Pulmonary Nontuberculous Mycobacterial (NTM) Disease and Bronchiectasis

Research Overview

Pulmonary nontuberculous mycobacterial (NTM) disease and bronchiectasis have shown a notable increase in clinical settings in recent years. It is hypothesized that not only bacterial factors but also host factors are involved in the pathology of pulmonary NTM disease.

We conducted the world's first genome-wide association study (GWAS) comparing the genotypes of patients with pulmonary Mycobacterium avium complex (MAC) disease and healthy controls. The study revealed a strong association between genetic variations in the Calcineurin B homologous protein 2 (CHP2) region, which plays a crucial role in regulating intracellular and extracellular ions and pH levels, and the risk of developing the disease.

Furthermore, through an international collaborative study with the U.S. National Institutes of Health and South Korea's Samsung Medical Center, we demonstrated that this genetic variation is associated not only in Japanese populations but also in Korean and European populations. Currently, we have expanded our international collaboration by establishing the NTM Research Consortium (https://pulmonaryinfection.com/), aiming to identify susceptibility genes for pulmonary NTM disease and bronchiectasis. This effort involves researchers from Japan, the United States, Australia, South Korea, and Taiwan.

Key Research Achievements

  1. Namkoong H, Omae Y, Asakura T, Ishii M, Suzuki S, Morimoto K, Kawai Y, Emoto K, Oler AJ, Szymanski EP, Yoshida M, Matsuda S, Yagi K, Hase I, Nishimura T, Sasaki Y, Asami T, Shiomi T, Matsubara H, Shimada H, Hamamoto J, Jhun BW, Kim SY, Huh HJ, Won HH, Ato M, Kosaki K, Betsuyaku T, Fukunaga K, Kurashima A, Tettelin H, Yanai H, Mahasirimongkol S, Olivier KN, Hoshino Y, Koh WJ, Holland SM, Tokunaga K, Hasegawa N; Nontuberculous Mycobacteriosis and Bronchiectasis – Japan Research Consortium (NTM-JRC). Genome-wide association study in patients with pulmonary Mycobacterium avium complex disease. Eur Respir J. 2021 Aug 12;58(2):1902269.
  2. Namkoong H, Kurashima A, Morimoto K, Hoshino Y, Hasegawa N, Ato M, Mitarai S. Epidemiology of Pulmonary Nontuberculous Mycobacterial Disease, Japan. Emerg Infect Dis. 2016 Jun;22(6):1116-7.