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

A complete screening of the CFTR gene by DGGE and DNA sequencing was perfor med in patients with sarcoidosis. In 8/26 cases, missense and splicing CFTR gene mutations were found, a significant difference over controls (9/89) f rom the same population (P = 0.014). The odds ratio for a person with a CFT R gene mutation to develop the disease is 3.95 (1.18 < OR < 13.26). Seven d ifferent 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 stu dy, 1991V. R75Q mutation was present in 3/26 patients, a significant increa se (P = 0.01) in cases over controls, indicating its preferential associati on with sarcoidosis. A trend towards disease progression was observed in pa tients with CFTR gene mutations compared to patients without mutations. The se data suggest that CFTR gene mutations predispose to the development of s arcoidosis.