TY - JOUR
T1 - Increased frequency of CFTR gene mutations in sarcoidosis
T2 - A case/control association study
AU - Bombieri, Cristina
AU - Luisetti, Maurizio
AU - Belpinati, Francesca
AU - Zuliani, Elisa
AU - Beretta, Anna
AU - Baccheschi, Jordan
AU - Casali, Lucio
AU - Pignatti, Pier Franco
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - CFTR gene mutations
KW - Cystic fibrosis
KW - Genotype-phenotype correlations
KW - Pulmonary diseases
KW - Sarcoidosis
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U2 - 10.1038/sj.ejhg.5200524
DO - 10.1038/sj.ejhg.5200524
M3 - Article
C2 - 10980579
AN - SCOPUS:0033818595
VL - 8
SP - 717
EP - 720
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 9
ER -