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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Interaction among variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1, and SLC9A3) and CFTR mutations with clinical markers of cystic fibrosis

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Author(s):
Pereira, Stephanie V. N. [1] ; Ribeiro, Jose D. [2, 3] ; Bertuzzo, Carmen S. [1] ; Marson, Fernando A. L. [2, 1, 3]
Total Authors: 4
Affiliation:
[1] Univ Estadual Campinas, Sch Med Sci, Dept Med Genet, Rua Tessalia Vieira de Camargo 126, BR-13083887 Sao Paulo - Brazil
[2] Univ Estadual Campinas, Sch Med Sci, Dept Pediat, Sao Paulo - Brazil
[3] Univ Estadual Campinas, Sch Med Sci, Ctr Pediat Invest, Lab Pulm Physiol, Sao Paulo - Brazil
Total Affiliations: 3
Document type: Journal article
Source: PEDIATRIC PULMONOLOGY; v. 53, n. 7, p. 888-900, JUL 2018.
Web of Science Citations: 2
Abstract

BackgroundCystic 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. MethodsA 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. ResultsThere 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). ConclusionInteraction 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. (AU)

FAPESP's process: 11/12939-4 - Association between polymorphisms in modifier genes in children and adolescent with allergic and non-allergic: mild, moderate and severe asthma
Grantee:Fernando Augusto de Lima Marson
Support type: Scholarships in Brazil - Doctorate
FAPESP's process: 15/12183-8 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia
Grantee:Jose Dirceu Ribeiro
Support type: Regular Research Grants
FAPESP's process: 11/18845-1 - Association between polymorphisms in modifier genes in children and adolescent with allergic and non-allergic mild, moderate and severe asthma
Grantee:Jose Dirceu Ribeiro
Support type: Regular Research Grants
FAPESP's process: 15/12858-5 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia
Grantee:Fernando Augusto de Lima Marson
Support type: Scholarships in Brazil - Post-Doctorate