Publications

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

Authors:
Andrea Mafficini;Myriam Ortombina; Isabelle Sermet-Gaudelius ; Patrick Lebecque; Teresinha Leal; Patrizia Iansa; Gregory Reychler; Karin Dahan; Xaviers Pepermans; Gerard Lenoir; Anissa Leonard; Sorio Claudio; Baroukh Maurice Assael; Paola Melotti
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:
A Stampa
Referee:
Name of journal:
Journal of Cystic Fibrosis
ISSN of journal:
1569-1993
N° Volume:
10
:
Elsevier
Page numbers:
228-233
Keyword:
NT_010393.16:g.15983174C>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:
Cystic Fibrosis Transmembrane-conductance Regulator and Multidrug Resistance-associated Protein 1 share the highest homology among the ATP Binding Cassette (ABC) transporter superfamily members. 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. We aimed at investigating the impact of this polymorphism on the severity of cystic fibrosis disease. We determined the ABCC1 genotype in 130 non-cystic fibrosis subjects and 209 cystic fibrosis patients homozygous for F508del mutation. We performed gene reporter studies in cystic fibrosis and non-cystic fibrosis airway cell lines, detected ABCC1 mRNA levels and basal or cAMP-stimulated anion conductance in nasal cells of 20 cystic fibrosis patients. We assessed severity of cystic fibrosis disease in 203 patients. ABCC1 promoter activity was lower for the C allele than the G though the difference was not significant (p = 0.061). Allelic frequencies were not significantly related with the ABCC1 mRNA levels nor with basal and cAMP-stimulated anion conductance. A 6-year earlier colonization by P. aeruginosa was detected in the presence of the CC allele in comparison with the other alleles (p=0.0035). The CC patient subgroup cumulated almost significant lower FEV1 and poorer nutritional status. No significant association was found between ABCC1 polymorphism and diabetes prevalence. Our findings suggest some deleterious effects of the CC genotype such as earlier chronic infection by P aeruginosa and decrease of lung function. Eventual prediction of these events in CF patients based on CC genotype could allow for more appropriate follow-up and therapies.
Product ID:
61029
Handle IRIS:
11562/345850
Deposited On:
June 23, 2011
Last Modified:
November 2, 2016
Bibliographic citation:
Andrea Mafficini;Myriam Ortombina; Isabelle Sermet-Gaudelius ; Patrick Lebecque; Teresinha Leal; Patrizia Iansa; Gregory Reychler; Karin Dahan; Xaviers Pepermans; Gerard Lenoir; Anissa Leonard; Sorio Claudio; Baroukh Maurice Assael; Paola Melotti, Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis. «Journal of Cystic Fibrosis» , vol. 102011pp. 228-233

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