Investigators

Principal Investigator

Dr Ho Namkoong (Japan)

Co-Investigators

Dr Rachel Thomson (Australia)
Dr Byung Woo Jhun (Republic of Korea)
Dr Naoki Hasegawa (Japan)
Dr Kozo Morimoto (Japan)
Dr Takanori Asakura (Japan)

Project term

1 January 2021 – 31 December 2023

Project Summary

Pulmonary nontuberculous mycobacteria (NTM) disease is a chronic progressive pulmonary infectious disease caused by low virulence pathogens. The number of NTM patients has been increasing globally, especially in the Asia-Pacific region. Our team has been elucidating these epidemiological findings and their clinical impact.
Despite the dramatic global increase of NTM, issues such as ineffective antimicrobial agents, difficulty in the development of novel antimicrobial drugs, and risk of emergence of drug-resistant bacteria following long-term use of antimicrobial agents persist. Therefore, new strategies are warranted for better therapeutic options. Considering that NTM are ubiquitously present in the environment and have low virulence, these findings suggest a genetic predisposition to pulmonary NTM disease. However, there are few genetic studies on pulmonary NTM disease, and no genome-wide association study (GWAS) has been published for pulmonary NTM or Mycobacterium avium complex (MAC) diseases.
The Japan and Republic of Korea teams conducted the first pulmonary MAC GWAS, including 2,064 patients and 3,063 controls, including Japanese, Korean and European populations. This study provides a basis for conducting further research with a larger sample size, and we plan to establish a global research network to identify susceptible genes for pulmonary NTM disease in the Asia-Pacific region using trans-ethnic meta-analysis of GWAS and exome sequencing of familial NTM cases. We will further perform functional validation of the identified regions to better understand the pathogenesis of pulmonary NTM disease.
The project reports are published at pulmonaryinfection.com/ and pulmonaryinfection.wordpress.com/.