- 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:
-
Sì
- 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»
,
2011
,
pp. [Epub ahead of print]-Mar 22
Consulta la scheda completa presente nel
repository istituzionale della Ricerca di Ateneo 
