Referenced in: none

Automatically associated channels: Slo1

Title: Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients.

Authors: Paola Melotti, Andrea Mafficini, Patrick Lebecque, Myriam Ortombina, Teresinha Leal, Emily Pintani, Xavier Pepermans, Claudio Sorio, Baroukh Maurice Assael

Journal, date & volume: PLoS ONE, 2014 , 9, e114274

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25503271

Abstract
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.