| Literature DB >> 21435954 |
Andrea Mafficini1, Myriam Ortombina, Isabelle Sermet-Gaudelius, Patrick Lebecque, Teresinha Leal, Patrizia Iansa, Gregory Reychler, Karin Dahan, Xaviers Pepermans, Gerard Lenoir, Anissa Leonard, Claudio Sorio, Baroukh Assael, Paola Melotti.
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.Entities:
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Year: 2011 PMID： 21435954 DOI： 10.1016/j.jcf.2010.10.007
Source DB: PubMed Journal: J Cyst Fibros ISSN： 1569-1993 Impact factor: 5.482