IL-8 gene as a modifier of cystic fibrosis

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

Abstract

Cystic fibrosis (CF) is caused by Cystic FibrosisTransmembrane regulator (CFTR)mutations . The CFclinical variability is associatedwith 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 withclinical variability of the disease,whereas CFTR mutations.In the study, 190 CF atients will be enrolled, diagnosed bytwo sweat testswith 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).Thepatients will also underwent clinical and laboratory study toassessment ofclinical 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 insufficiencyandliver disease). The data will be analyzed considering the level ofsignificance=0.05.

Scientific publications

(The scientific publications listed on this page originate from the Web of Science or SciELO databases. Their authors have cited FAPESP grant or fellowship project numbers awarded to Principal Investigators or Fellowship Recipients, whether or not they are among the authors. This information is collected automatically and retrieved directly from those bibliometric databases.)

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. (11/18845-1, 15/12183-8, 11/12939-4, 13/19052-0, 15/12858-5)

LARISSA LAZZARINI FURLAN; JOSÉ DIRCEU RIBEIRO; CARMEN SÍLVIA BERTUZZO; JOÃO BATISTA SALOMÃO JUNIOR; DOROTÉIA ROSSI SILVA SOUZA; FERNANDO AUGUSTO LIMA MARSON. Variantes no gene da interleucina 8 e a resposta a broncodilatadores inalatórios na fibrose cística,. Jornal de Pediatria, v. 93, n. 6, p. 639-648, 2017-12-00. (13/19052-0, 11/18845-1, 15/12183-8, 15/12858-5, 11/12939-4)

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. (11/12939-4, 13/19052-0, 11/18845-1, 15/12858-5)