Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients
(2014) PLoS One — Vol. 9, n° 12, p. e114274 [1-12] (2014)
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- 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.
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Melotti, P., Mafficini, A., Lebecque, P., Ortombina, M., Leal, T., Pintani, E., Pepermans, X., Sorio, C., & Assael, B. M. (2014). Impact of MIF gene promoter polymorphism on F508del cystic fibrosis patients. PLoS One, 9(12), e114274 [1-12]. https://doi.org/10.1371/journal.pone.0114274 (Original work published 2014)