Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients
Data(s) |
01/01/2012
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Resumo |
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. |
Identificador | |
Idioma(s) |
eng |
Direitos |
info:eu-repo/semantics/restrictedAccess |
Fonte |
Corvol , H , Beucher , J , Boëlle , P-Y , Busson , P-F , Muselet-Charlier , C , Clement , A , Ratjen , F , Grasemann , H , Laki , J , Palmer , C N A , Elborn , J S & Mehta , A 2012 , ' Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients ' Journal of Cystic Fibrosis , vol 11 , no. 1 , pp. 63-7 . DOI: 10.1016/j.jcf.2011.09.006 |
Palavras-Chave | #/dk/atira/pure/subjectarea/asjc/2700/2740 #Pulmonary and Respiratory Medicine #/dk/atira/pure/subjectarea/asjc/2700/2735 #Pediatrics, Perinatology, and Child Health |
Tipo |
article |