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

Cristina Bombieri, Maurizio Luisetti, Francesca Belpinati, Elisa Zuliani, Anna Beretta, Jordan Baccheschi, Lucio Casali, Pier Franco Pignatti

Research output: Contribution to journalArticlepeer-review


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, 1991V. 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.

Original languageEnglish
Pages (from-to)717-720
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number9
Publication statusPublished - 2000


  • CFTR gene mutations
  • Cystic fibrosis
  • Genotype-phenotype correlations
  • Pulmonary diseases
  • Sarcoidosis

ASJC Scopus subject areas

  • Genetics(clinical)


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