Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis

J Hum Genet. 2013 May;58(5):298-303. doi: 10.1038/jhg.2013.19. Epub 2013 Mar 21.


Several lines of evidence suggest that in Caucasian populations, mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene are associated with susceptibility to lung disease caused by nontuberculous mycobacteria (NTM). However, there is little data available in Asian populations, in which the prevalence of CF is very low. Therefore, we investigated this potential relationship in a Korean population. Sixty patients who fulfilled the diagnostic criteria for NTM lung disease were screened for genetic alterations in the CFTR gene by whole-exon resequencing. For all identified CFTR gene variants, matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) genotyping was performed. Genotype and haplotype data were compared between 360 patients with NTM lung disease and 446 healthy controls. Among 13 CFTR genetic variants that were found by whole-exon resequencing, Q1352H showed a significantly higher frequency in NTM patients than in controls, giving an odds ratio (OR) of 4.27 (95% confidence interval (CI), 1.43-12.78). A haplotype with Q1352H showed the strongest association with the disease, with an OR of 3.73 (95% CI, 1.50-9.25). Furthermore, all Q1352H alleles were associated with the V allele of the V470M variant. Our results suggest that CFTR gene variants may increase susceptibility to NTM lung disease in the Korean population. Q1352H appears to be strongly related to NTM lung disease susceptibility in the Korean population.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Asians
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / epidemiology*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Exons
  • Female
  • Gene Frequency
  • Genetic Variation*
  • Genotype
  • Humans
  • Lung Diseases / complications
  • Lung Diseases / epidemiology
  • Lung Diseases / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Mycobacterium Infections, Nontuberculous / complications
  • Mycobacterium Infections, Nontuberculous / epidemiology
  • Mycobacterium Infections, Nontuberculous / genetics*
  • Polymorphism, Single Nucleotide
  • Prevalence
  • Republic of Korea / epidemiology
  • Young Adult


  • Cystic Fibrosis Transmembrane Conductance Regulator