NTM Host Research Consortium is an international consortium aiming to discover the human genetic factors of NTM infection.
Based on our growing international collaborative framework, we establish the "NTM Host Research Consortium"Our findings provide novel insights into pulmonary NTM disease and a basis for future collaborative research into the pathogenesis of this condition. This consortium aims to accelerate joint studies on host factors of NTM disease with a large international cohort. At present, a large-scale cohort of pulmonary NTM disease with DNA samples and detailed clinical information has not been organized globally. The use of a larger sample size is likely to be enable identification of more candidate genes in GWAS. Further international collaborative GWAS may reveal additional candidate genes related to NTM diseases in addition to unveiling critical pathways in the pathogenesis of pulmonary NTM disease.
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.
We reported familial clustering of pulmonary NTM and observed a higher incidence in Asians than in Caucasians or African Americans in the United States. 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 Korea teams conducted the first pulmonary MAC GWAS, including 2064 patients and 3063 controls, including Japanese, Korean and European populations. Single nucleotide polymorphisms (SNPs) in the region of the calcineurin like EF-hand protein 2 gene (CHP2) on chromosome 16p21 were associated with risk of pulmonary MAC disease. expression quantitative trait locus analysis revealed that the most strongly associated SNP (rs109592) affected lung CHP2 expression.