title: Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis.
abstract: 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 6 years earlier (mean ± SD: 11.2 year ± 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.
authors: Department of Pathology, General Pathology Section, University of Verona School of Medicine, Strada Le Grazie, 37134 Verona, Italy.
authors: Andrea
authors: A
authors: Mafficini
authors: Myriam
authors: M
authors: Ortombina
authors: Isabelle
authors: I
authors: Sermet-Gaudelius
authors: Patrick
authors: P
authors: Lebecque
authors: Teresinha
authors: T
authors: Leal
authors: Patrizia
authors: P
authors: Iansa
authors: Gregory
authors: G
authors: Reychler
authors: Karin
authors: K
authors: Dahan
authors: Xaviers
authors: X
authors: Pepermans
authors: Gerard
authors: G
authors: Lenoir
authors: Anissa
authors: A
authors: Leonard
authors: Claudio
authors: C
authors: Sorio
authors: Baroukh
authors: B
authors: Assael
authors: Paola
authors: P
authors: Melotti
mesh_terms: D000293:Adolescent; D000328:Adult; D002460:Cell Line; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics* / Q000382:microbiology; D016208:Databases, Factual; D004847:Epithelial Cells / Q000166:cytology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D053208:Kaplan-Meier Estimate; D008297:Male; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D011552:Pseudomonas Infections / Q000453:epidemiology / Q000235:genetics*; D011550:Pseudomonas aeruginosa / Q000302:isolation & purification*; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D027425:ATP-Binding Cassette, Sub-Family C Proteins; C421109:multidrug resistance-associated protein 1