Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients
In: PLoS One, Vol. 9, no. 12, p. e114274 [1-12] (2014, 2014
Online
academicJournal
Zugriff:
Macrophage migration Inhibitory Factor (MIF) is a pro-inflammatory cytokine sustaining the acute response to gram-negative bacteria and a regulatory role for MIF in Cystic Fibrosis has been suggested by the presence of a functional, polymorphic, four-nucleotide repeat in this gene's promoter at position -794, with the 5-repeat allele displaying lower promoter activity. We aimed at assessing the association of this polymorphism with disease severity in a group of Cystic Fibrosis patients homozygous for F508del CFTR gene mutation. Genotype frequencies were determined in 189 Cystic Fibrosis and 134 control subjects; key clinical features of patients were recorded and compared among homozygous 5-allele patients and the other MIF genotypes. Patients homozygous for the 5-repeat allele of MIF promoter displayed a slower rate of lung function decline (p = 0.027) at multivariate survival analysis. Multiple regression analysis on age-normalized respiratory volume showed no association of the homozygous 5-repeat genotype with lung function under stable conditions and no correlation with P.aeruginosa chronic colonization. Therefore, only the Homozygous 5-repeat genotype at MIF -794 is associated with milder disease in F508del Cystic Fibrosis patients.
Titel: |
Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients
|
---|---|
Autor/in / Beteiligte Person: | Melotti, Paola ; Mafficini, Andrea ; Lebecque, Patrick ; Ortombina, Myriam ; Leal, Teresinha ; Pintani, Emily ; Pepermans, Xavier ; Sorio, Claudio ; Assael, Baroukh Maurice ; UCL - (SLuc) Service de pédiatrie générale ; UCL - SSS/IREC/PEDI - Pôle de Pédiatrie ; UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie ; UCL - SSS/IREC/LTAP - Louvain Centre for Toxicology and Applied Pharmacology ; UCL - (SLuc) Centre de l'allergie ; UCL - (SLuc) Service de biochimie médicale ; UCL - (SLuc) Centre de génétique médicale, UCL |
Link: | |
Zeitschrift: | PLoS One, Vol. 9, no. 12, p. e114274 [1-12] (2014, 2014 |
Veröffentlichung: | Public Library of Science, 2014 |
Medientyp: | academicJournal |
ISSN: | 1932-6203 (print) |
DOI: | 10.1371/journal.pone.0114274 |
Sonstiges: |
|