IL-8 gene as a modifier of cystic fibrosis

• Grant number: 13/19052-0
• Support type: Scholarships in Brazil - Scientific Initiation
• Effective date (Start): March 01, 2014
• Effective date (End): February 29, 2016
• Field of knowledge: Health Sciences - Medicine
• Principal researcher: Dorotéia Rossi Silva Souza
• Grantee: Larissa Lazzarini Furlan
• Home Institution: Faculdade de Medicina de São José do Rio Preto (FAMERP). Secretaria de Desenvolvimento Econômico (São Paulo - Estado). São José do Rio Preto , SP, Brazil

Abstract

Cystic fibrosis (CF) is caused by Cystic FibrosisTransmembrane regulator (CFTR)mutations . The CF clinical variability is associated with CFTR mutations, environmental factors and modifier gene, mainly related to pulmonary disease. Itshould be noted, in this case, the IL-8 gene (interleukin 8), which thepolymorphismhave been related to the CF severity, considering its importanceinimmune response, with a possible effect on the clinical variability of thedisease.This study aims to analyze the distribution of IL-8 polymorphismsin CFpatients, and to evaluate its association with clinical variability of the disease, whereas CFTR mutations.In the study, 190 CF atients will be enrolled, diagnosed bytwo sweat tests with chloride greater than 60 mEq/L and clinical compatibility. TheIL-8 polymorphisms(rs4073, rs2227307 and rs2227306) will be analyzed byPCR/RFLP(polymerase chain reaction/restriction fragment length polymorphism). The patients will also underwent clinical and laboratory study to assessment of clinical severity scores, body mass index, age at diagnosis, 1st clinical symptoms(pulmonary, digestive and both)period to the first colonization by Pseudomonasaeruginosa, microorganisms[P. aeruginosa (mucoid and non-mucoid), Achromobacterxylosoxidans, Burkolderia cepacia and Staphylococcus aureus], spirometry, transcutaneous oxygen saturation and comorbidities (nasalpolyposis, osteoporosis, meconium ileus, diabetes mellitus, pancreatic insufficiency andliver disease). The data will be analyzed considering the level of significance=0.05.

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

FURLAN, LARISSA LAZZARINI; RIBEIRO, JOSE DIRCEU; BERTUZZO, CARMEN SILVIA; SALOMAO JUNIOR, JOAO BATISTA; SILVA SOUZA, DOROTEIA ROSSI; LIMA MARSON, FERNANDO AUGUSTO. Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis. Jornal de Pediatria, v. 93, n. 6, p. 639-648, NOV-DEC 2017. Web of Science Citations: 5.

LARISSA LAZZARINI FURLAN; JOSÉ DIRCEU RIBEIRO; CARMEN SÍLVIA BERTUZZO; JOÃO BATISTA SALOMÃO JUNIOR; DOROTÉIA ROSSI SILVA SOUZA; FERNANDO AUGUSTO LIMA MARSON. Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis,. Jornal de Pediatria, v. 93, n. 6, p. -, Dez. 2017.

FURLAN, LARISSA LAZZARINI; LIMA MARSON, FERNANDO AUGUSTO; RIBEIRO, JOSE DIRCEU; BERTUZZO, CARMEN SILVIA; SALOMAO JUNIOR, JOAO BATISTA; SILVA SOUZA, DOROTEIA ROSSI. IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability. Human Genetics, v. 135, n. 8, p. 881-894, AUG 2016. Web of Science Citations: 16.