| Texto completo | |
| Autor(es): |
Furlan, Larissa Lazzarini
;
Lima Marson, Fernando Augusto
;
Ribeiro, Jose Dirceu
;
Bertuzzo, Carmen Silvia
;
Salomao Junior, Joao Batista
;
Silva Souza, Doroteia Rossi
Número total de Autores: 6
|
| Tipo de documento: | Artigo Científico |
| Fonte: | Human Genetics; v. 135, n. 8, p. 881-894, AUG 2016. |
| Citações Web of Science: | 16 |
| Resumo | |
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. (AU) | |
| Processo FAPESP: | 11/12939-4 - Associação entre polimorfismos de genes moduladores em crianças e adolescentes com asma alérgica e não alérgica: leve, moderada e grave |
| Beneficiário: | Fernando Augusto de Lima Marson |
| Modalidade de apoio: | Bolsas no Brasil - Doutorado |
| Processo FAPESP: | 13/19052-0 - Gene IL-8 como modificador da fibrose cística |
| Beneficiário: | Larissa Lazzarini Furlan |
| Modalidade de apoio: | Bolsas no Brasil - Iniciação Científica |
| Processo FAPESP: | 11/18845-1 - Associação entre polimorfismos de genes moduladores em crianças e adolescentes com asma alérgica e não alérgica leve, moderada e grave |
| Beneficiário: | Jose Dirceu Ribeiro |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |
| Processo FAPESP: | 15/12858-5 - Identificação das mutações prevalentes e caracterização clínica e funcional de crianças e adultos com discinesia ciliar primária |
| Beneficiário: | Fernando Augusto de Lima Marson |
| Modalidade de apoio: | Bolsas no Brasil - Pós-Doutorado |