2021/04/22
Keio University School of Medicine
National Center for Global Health and Medicine
A research group led by Lecturer Hugo Nankoo of the Department of Infectious Diseases, Keio University School of Medicine (at the time of publication: JSPS Research Fellow, Postdoctoral Fellow at the U.S. National Institutes of Health), Professor Naoki Hasegawa, Senior Researcher Yosuke Omae of the Genome Medical Science Project (Toyama) at the National Center for Global Health and Medicine, and Project Director Katsushi Tokunaga has reported the world's first genome-wide association study on pulmonary MAC disease, an intractable respiratory infection that has been rapidly increasing in recent years.
Nontuberculous mycobacteria (NTM) infect the lungs and cause chronic respiratory infections. Lecturer Hugo Nankoo and his colleagues have reported that pulmonary nontuberculous mycobacteriosis (pulmonary NTM disease) has been rapidly increasing in recent years and is a significant infectious disease from a public health perspective. Furthermore, with few effective curative treatments for pulmonary NTM disease, the need for further research and countermeasures has been pointed out. NTM consists of over 200 species, among which the MAC bacterium is the most frequent cause of infection. In Japan, pulmonary MAC disease accounts for about 90% of pulmonary NTM disease cases.
Although NTM, including the MAC bacterium, are low-virulence bacteria commonly found in environments such as water and soil, their predilection for primarily slender, middle-aged and older women has suggested the existence of disease susceptibility genes. In this study, the research group led by Lecturer Hugo Nankoo conducted the world's first genome-wide association study, comprehensively comparing the genotypes of pulmonary MAC disease patients and control subjects. They confirmed that a genetic variation in the Calcineurin B homologous protein 2 (CHP2) region, which plays a crucial role in regulating intracellular and extracellular ions and pH, is strongly associated with the risk of developing the disease. Furthermore, through international collaborative research with Samsung Medical Center in South Korea and the U.S. National Institutes of Health, they demonstrated that this genetic variation is associated not only with the Japanese population but also with Korean and European populations. By identifying a part of the previously unknown disease susceptibility genes for pulmonary MAC disease, this research is expected to contribute to the development of new therapeutic strategies and personalized medicine based on genotypes in clinical practice.
The results of this research were published online in the "European Respiratory Journal" on February 4, 2021.
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