Artículos de revistas
Il8 Gene As Modifier Of Cystic Fibrosis: Unraveling The Factors Which Influence Clinical Variability
Registro en:
Human Genetics. Springer, v. 135, p. 881 - 894, 2016.
0340-6717
1432-1203
WOS:000380060700004
10.1007/s00439-016-1684-4
Autor
Furlan
Larissa Lazzarini; Lima Marson
Fernando Augusto; Ribeiro
Jose Dirceu; Bertuzzo
Carmen Silvia; Salomao Junior
Joao Batista; Silva Souza
Doroteia Rossi
Institución
Resumen
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) 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. 135 8 881 894 Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2011/12939-4, 2015/12858-5] Fundo de Apoio a Pesquisa ao Ensino e a Extensao da Universidade Estadual de Campinas [0648/2015] FAPESP [2011/18845-1, 2013/19052-0] Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)