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Interaction among variants in the SLC gene family ( SLC6A14 , SLC26A9 , SLC11A1 , and SLC9A3 ) and CFTR mutations with clinical markers of cystic fibrosis
Author(s) -
Pereira Stephanie V. N.,
Ribeiro Jose D.,
Bertuzzo Carmen S.,
Marson Fernando A. L.
Publication year - 2018
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.24005
Subject(s) - cystic fibrosis , context (archaeology) , mutation , cystic fibrosis transmembrane conductance regulator , gene , medicine , genetics , phenotype , genotype , biology , paleontology
Background Cystic fibrosis (CF) is due to dysfunction of the CFTR channel and function of this channel is, in turn, affected by modifier genes that can impact the clinical phenotype. In this context, we analyzed the interaction among rs3788766* SLC6A14 , rs7512462* SLC26A9 , rs17235416* SLC11A1 , and rs17563161* SLC9A3 variants, CFTR mutations and 40 CF severity markers by the Multifactor Dimensionality Reduction (MDR) model. Methods A total of 164 patients with CF were included in the study. The variants in the modifier genes were identified by real‐time PCR and the genotype of the CFTR gene in the diagnostic routine. Analysis of interaction between variants, CFTR mutations groupings and demographic, clinical and laboratory data were performed by the MDR. Results There were interaction between the rs3788766, rs7512462, rs17235416, and rs17563161 variants, and CFTR mutations with pancreatic insufficiency (PI), onset of digestive symptoms, and presence of mucoid Pseudomonas aeruginosa . Regarding PI, the interaction was observed for CFTR *rs17563161 ( P ‐value = 0.015). Also, for onset of digestive symptoms the interaction was observed for CFTR *rs3788766*rs7512462*rs17235416*rs17563161 ( P ‐value = 0.036). Considering the presence of mucoid P. aeruginosa , the interaction occurred for CFTR *rs3788766*rs7512462*rs17563161 ( P ‐value = 0.035). Conclusion Interaction between variants in the SLC family genes and the grouping for CFTR mutations were associated with PI, onset of digestive symptoms and mucoid P. aeruginosa , being important to determine one of the factors that may cause the diversity among the patients with CF.