NDLI: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability

Content Provider	Springer Nature Link
Author	Furlan, Larissa Lazzarini Marson, Fernando Augusto Lima Ribeiro, José Dirceu Bertuzzo, Carmen Sílvia Salomão Junior, João Batista Souza, Dorotéia Rossi Silva
Copyright Year	2016
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 (SaO2) (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 (SaO2 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.
Starting Page	881
Ending Page	894
Page Count	14
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	135
Issue Number	8
e-ISSN	14321203
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2016-05-21
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Molecular Medicine Gene Function Metabolic Diseases
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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Erratum to: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability

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