Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype

J Yarden, D Radojkovic, K De Boeck… - Journal of medical …, 2004 - jmg.bmj.com
J Yarden, D Radojkovic, K De Boeck, M Macek, D Zemkova, V Vavrova, R Vlietinck…
Journal of medical genetics, 2004jmg.bmj.com
METHODS Patients and control subjects Only cystic fibrosis patients homozygous for the
F508del CFTR mutation were included in the study. We recruited 57 patients with cystic
fibrosis from the Belgium University Hospital Gasthuisberg and 122 patients with cystic
fibrosis from the Czech Republic Cystic Fibrosis Centre at Prague University Hospital Motol.
The control population comprised 85 healthy Belgian adult blood donors, 54 healthy Czech
adult blood donors and 48 newborns from the Czech Republic. Controls were ethnically …
METHODS Patients and control subjects Only cystic fibrosis patients homozygous for the F508del CFTR mutation were included in the study. We recruited 57 patients with cystic fibrosis from the Belgium University Hospital Gasthuisberg and 122 patients with cystic fibrosis from the Czech Republic Cystic Fibrosis Centre at Prague University Hospital Motol. The control population comprised 85 healthy Belgian adult blood donors, 54 healthy Czech adult blood donors and 48 newborns from the Czech Republic. Controls were ethnically matched to patients. For
Abbreviations: CFTR, cystic fibrosis transmembrane conductance regulator; MBL, MBL2, mannose binding lectin; SNP, single nucleotide polymorphism
jmg.bmj.com