Publications

Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis   (2011)

Authors:
Mafficini A, Ortombina M, Sermet-Gaudelius I, Lebecque P, Leal T, Iansa P, Reychler G, Dahan K, Pepermans X, Lenoir G, Leonard A, Sorio C, Assael B, Melotti P
Title:
Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis
Year:
2011
Type of item:
Articolo in Rivista
Tipologia ANVUR:
Articolo su rivista
Nations of authors:
FRANCIA; BELGIO; ITALIA
Language:
Inglese
Format:
Elettronico
Referee:
Name of journal:
Journal of Cystic Fibrosis
ISSN of journal:
1569-1993
:
Elsevier
Page numbers:
[Epub ahead of print]-Mar 22
Code PMID:
21435954
Keyword:
G polymorphism, Cystic fibrosis, Infection by Pseudomonas aeruginosa, Modifier gene, Multidrug Resistance-associated Protein 1, ABCC1, Severity of cystic fibrosis disease
Short description of contents:
A 5'FR/G-260C (NCBI reference: 010393.16:g.15983174C>G) functional polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) promoter has been reported which influences ABCC1 expression including inflammatory related events. We aimed at investigating the impact of this polymorphism on the severity of CF disease. In this multicentric study, key clinical features of 203 CF patients homozygous for the F508del mutation were recorded. Kaplan-Meier analysis showed that patients with the rare CC genotype were chronically colonized by PA around 6years earlier (mean±SD: 11.2year±7.8, 95% CI for the mean: 5.7-16.8) than those with the GG or the CG alleles (p<=0.01) and a FEV1 <60% predicted was first observed earlier in this group (p<0.05). Concordant trends to better nutritional status and FEV1 were observed in the slightly older GG subgroup. The potential role of ABCC1 promoter as a modifier gene deserves further study.
Product ID:
59960
Handle IRIS:
11562/-349772
Deposited On:
March 28, 2011
Last Modified:
April 14, 2011
Bibliographic citation:
Mafficini A, Ortombina M, Sermet-Gaudelius I, Lebecque P, Leal T, Iansa P, Reychler G, Dahan K, Pepermans X, Lenoir G, Leonard A, Sorio C, Assael B, Melotti P, Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis «Journal of Cystic Fibrosis»2011pp. [Epub ahead of print]-Mar 22

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