TY - JOUR
T1 - Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients
AU - Corvol, Harriet
AU - Beucher, Julie
AU - Boëlle, Pierre-Yves
AU - Busson, Pierre-François
AU - Muselet-Charlier, Céline
AU - Clement, Annick
AU - Ratjen, Felix
AU - Grasemann, Hartmut
AU - Laki, Judith
AU - Palmer, Colin N A
AU - Elborn, J Stuart
AU - Mehta, Anil
N1 - Copyright © 2011 European Cystic Fibrosis Society. All rights reserved.
PY - 2012/1
Y1 - 2012/1
N2 - The clinical course of cystic fibrosis (CF) lung disease varies between patients bearing identical CFTR mutations. This suggests that additional genetic modifiers may contribute to the pulmonary phenotype. The highly conserved ancestral haplotype 8.1 (8.1AH), carried by up to one quarter of Caucasians, comprises linked gene polymorphisms on chromosome 6 that play a key role in the inflammatory response: LTA +252A/G; TNF -308G/A, HSP70-2 +1267A/G and RAGE -429T/C. As inflammation is a key component inducing CF lung damage, we investigated whether the 8.1AH represents a lung function modifier in CF.
AB - The clinical course of cystic fibrosis (CF) lung disease varies between patients bearing identical CFTR mutations. This suggests that additional genetic modifiers may contribute to the pulmonary phenotype. The highly conserved ancestral haplotype 8.1 (8.1AH), carried by up to one quarter of Caucasians, comprises linked gene polymorphisms on chromosome 6 that play a key role in the inflammatory response: LTA +252A/G; TNF -308G/A, HSP70-2 +1267A/G and RAGE -429T/C. As inflammation is a key component inducing CF lung damage, we investigated whether the 8.1AH represents a lung function modifier in CF.
U2 - 10.1016/j.jcf.2011.09.006
DO - 10.1016/j.jcf.2011.09.006
M3 - Article
C2 - 21993476
SN - 1569-1993
VL - 11
SP - 63
EP - 67
JO - Journal of Cystic Fibrosis
JF - Journal of Cystic Fibrosis
IS - 1
ER -