Pubblicazioni

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

Autori:
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
Titolo:
Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis
Anno:
2011
Tipologia prodotto:
Articolo in Rivista
Tipologia ANVUR:
Articolo su rivista
Nazioni degli autori:
FRANCIA; BELGIO; ITALIA
Lingua:
Inglese
Formato:
Elettronico
Referee:
Nome rivista:
Journal of Cystic Fibrosis
ISSN Rivista:
1569-1993
Editore:
Elsevier
Intervallo pagine:
[Epub ahead of print]-Mar 22
Codice PMID:
21435954
Parole chiave:
G polymorphism, Cystic fibrosis, Infection by Pseudomonas aeruginosa, Modifier gene, Multidrug Resistance-associated Protein 1, ABCC1, Severity of cystic fibrosis disease
Breve descrizione dei contenuti:
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.
Id prodotto:
59960
Handle IRIS:
11562/-349772
depositato il:
28 marzo 2011
ultima modifica:
14 aprile 2011
Citazione bibliografica:
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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