What is it about?

This is the first GWAS of pulmonary MAC and included 2064 patients and 3063 controls. Single-nucleotide polymorphisms (SNPs) in the calcineurin like EF-hand protein 2 (CHP2) on chromosome 16p21 were associated with pulmonary MAC disease risk. Expression quantitative trait loci analysis showed that the most strongly associated SNP (rs109592) affected lung CHP2 expression. This SNP was strongly associated with the nodular bronchiectasis disease subtype. Furthermore, the disease risk of this SNP was shared between Japanese, Korean, and European patients with MAC. Moreover, this SNP was associated with tuberculosis and may be associated with non-NTM bronchiectasis.

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Why is it important?

Pulmonary nontuberculous mycobacteria (NTM) disease is a chronic progressive lung disease caused by mycobacteria and may have a genetic basis. No genome-wide association study (GWAS) has been conducted to evaluate pulmonary NTM or Mycobacterium avium complex (MAC) diseases.


Our results suggest that CHP2, involved in cellular pH and ion homeostasis, plays an important role in host susceptibility to pulmonary MAC disease. These results provide a basis for functional validation to better understand the pathogenesis of pulmonary MAC disease.

Ho Namkoong

Read the Original

This page is a summary of: Genome-wide association study in patients with pulmonary Mycobacterium avium complex disease, European Respiratory Journal, February 2021, European Respiratory Society (ERS), DOI: 10.1183/13993003.02269-2019.
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