Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study

Eur J Hum Genet. 2000 Sep;8(9):717-20. doi: 10.1038/sj.ejhg.5200524.


A complete screening of the CFTR gene by DGGE and DNA sequencing was performed in patients with sarcoidosis. In 8/26 cases, missense and splicing CFTR gene mutations were found, a significant difference over controls (9/89) from the same population (P = 0.014). The odds ratio for a person with a CFTR gene mutation to develop the disease is 3.95 (1.18 < OR < 13.26). Seven different CFTR gene mutations were observed: R75Q, R347P, 621 + 3 A/G, 1898 + 3 A/G, L997F, G1069R, and a novel mutation which was detected in this study, I991V. R75Q mutation was present in 3/26 patients, a significant increase (P = 0. 01) in cases over controls, indicating its preferential association with sarcoidosis. A trend towards disease progression was observed in patients with CFTR gene mutations compared to patients without mutations. These data suggest that CFTR gene mutations predispose to the development of sarcoidosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alternative Splicing
  • Case-Control Studies
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / physiology
  • Female
  • Gene Frequency*
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics
  • Genotype
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Protein Isoforms / genetics
  • Sarcoidosis, Pulmonary / epidemiology
  • Sarcoidosis, Pulmonary / genetics*


  • CFTR protein, human
  • Protein Isoforms
  • Cystic Fibrosis Transmembrane Conductance Regulator