Please use this identifier to cite or link to this item:
Type: Artigo
Title: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability
Author: Furlan, Larissa Lazzarini
Lima Marson, Fernando Augusto
Ribeiro, Jose Dirceu
Bertuzzo, Carmen Silvia
Salomao Junior, Joao Batista
Silva Souza, Doroteia Rossi
Abstract: The severity of cystic fibrosis (CF) is associated with classes of mutations in the CFTR gene (cystic fibrosis transmembrane regulator), physical environment and modifier genes interaction. The IL8 gene (interleukin 8), according to its respective polymorphisms, influences inflammatory responses. This study analyzed IL8 gene polymorphisms (rs4073, rs2227306 and rs2227307), by means of PCR/RFLP, and their association with pulmonary function markers and clinical severity scores in 186 patients with CF, considering the CFTR genotype. There was an association between rs2227307 and precocity of the disease. The severity of lung disease was associated with the following markers: transcutaneous arterial hemoglobin oxygen saturation (SaO(2)) (regardless of CFTR genotype, for the polymorphisms rs4073, rs2227306 and rs2227307); mucoid Pseudomonas aeruginosa (regardless of CFTR genotype, for the polymorphisms rs2227306 and rs2227307). Pulmonary function markers (SaO(2) and spirometric variables) and clinical severity scores were also associated with IL8 gene polymorphisms. This study identified the IL8 gene, represented by rs4073 and rs2227306 polymorphisms, and particularly the rs2227307 polymorphism, as potentiating factors for the degree of variability in the severity of CF, especially in pulmonary clinical manifestation correlated with increased morbidity and mortality
Subject: Pré-escolar
Fibrose cística
Estudos de associação genética
Country: Alemanha
Editor: Springer
Rights: Fechado
Identifier DOI: 10.1007/s00439-016-1684-4
Date Issue: 2016
Appears in Collections:FCM - Artigos e Outros Documentos

Files in This Item:
File SizeFormat 
000394359900007.pdf422.51 kBAdobe PDFView/Open

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.