Article
AGER -429T/C is associated with an increased lung disease severity in cystic fibrosis.
PloS one - 1 Jan 2012
Beucher Julie, Boëlle Pierre-Yves, Busson Pierre-François, Muselet-Charlier Céline, Clement Annick, Corvol Harriet
Abstract excerpt
The clinical course of cystic fibrosis (CF) varies between patients bearing identical CFTR mutations, suggesting the involvement of modifier genes. We assessed the association of lung disease severity with the variant AGER -429 T/C, coding for RAGE, a pro-inflammatory protein, in CF patients from the French CF Gene Modifier Study. We analyzed the lung function of 967 CF patients p.Phe508del homozygous. FEV(1) was...
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