Masahiro Kanai

The COVID-19 pandemic spurred extensive research into the risks of infection susceptibility and disease severity. For infectious diseases like COVID-19 and influenza, both environmental and genetic factors are believed to influence these risks. Unraveling the genetic factors behind COVID-19 is crucial for deepening our understanding of its pathology and transmission mechanisms, as well as aiding in the development of treatments.

Masahiro Kanai, a research fellow at Massachusetts General Hospital, specializes in statistical genetics and has worked to elucidate human genetic diversity through large-scale genomic data analysis. In March 2020, during the early stages of the COVID-19 pandemic, the human genetics community established an international consortium called the COVID-19 Host Genetics Initiative (COVID-19 HGI). As of 2024, more than 3,000 researchers from 35 countries have participated in the initiative, analyzing genetic data from COVID-19 patients.

As one of COVID-19 HGI’s writing group leads, Kanai has been a central figure from the outset, serving as the lead author of the latest report published in Nature in 2023. This research analyzed the genomes of 220,000 COVID-19 patients and over 3.4 million controls, identifying 51 genomic regions associated with infection susceptibility and severity. These genes mapped to pathways involved in viral entry, airway defence in mucus, and type I interferon response, significantly contributing to our mechanistic understanding of the genetic architecture of COVID-19. These findings provided critical evidence for multiple clinical trials of therapeutic drugs.

Notably, COVID-19 HGI identified the initial associated gene just four months after its establishment and immediately released the results worldwide, bypassing the traditional publication process. Kanai states, “By continuously releasing our latest results to the public, we were able to address urgent global public health issues. We clearly demonstrated the importance of human geneticists and the effectiveness of international collaboration in building a society resilient to future pandemics.” This rapid and transparent research approach sets a significant precedent for preparing against potential future pandemics.