Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients

Harriet Corvol, Julie Beucher, Pierre-Yves Boëlle, Pierre-François Busson, Céline Muselet-Charlier, Annick Clement, Felix Ratjen, Hartmut Grasemann, Judith Laki, Colin N A Palmer, J Stuart Elborn, Anil Mehta

Research output: Contribution to journalArticlepeer-review

18 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)63-7
Number of pages5
JournalJournal of Cystic Fibrosis
Volume11
Issue number1
DOIs
Publication statusPublished - Jan 2012

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Pediatrics, Perinatology, and Child Health

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