| Texto completo | |
| Autor(es): |
Pereira, Stephanie V. N.
[1]
;
Ribeiro, Jose D.
[2, 3]
;
Bertuzzo, Carmen S.
[1]
;
Marson, Fernando A. L.
[2, 1, 3]
Número total de Autores: 4
|
| Afiliação do(s) autor(es): | [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
Número total de Afiliações: 3
|
| Tipo de documento: | Artigo Científico |
| Fonte: | PEDIATRIC PULMONOLOGY; v. 53, n. 7, p. 888-900, JUL 2018. |
| Citações Web of Science: | 2 |
| Resumo | |
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) | |
| Processo FAPESP: | 11/12939-4 - Associação entre polimorfismos de genes moduladores em crianças e adolescentes com asma alérgica e não alérgica: leve, moderada e grave |
| Beneficiário: | Fernando Augusto de Lima Marson |
| Modalidade de apoio: | Bolsas no Brasil - Doutorado |
| Processo FAPESP: | 15/12183-8 - Identificação das mutações prevalentes e caracterização clínica e funcional de crianças e adultos com discinesia ciliar primária |
| Beneficiário: | Jose Dirceu Ribeiro |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |
| Processo FAPESP: | 11/18845-1 - Associação entre polimorfismos de genes moduladores em crianças e adolescentes com asma alérgica e não alérgica leve, moderada e grave |
| Beneficiário: | Jose Dirceu Ribeiro |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |
| Processo FAPESP: | 15/12858-5 - Identificação das mutações prevalentes e caracterização clínica e funcional de crianças e adultos com discinesia ciliar primária |
| Beneficiário: | Fernando Augusto de Lima Marson |
| Modalidade de apoio: | Bolsas no Brasil - Pós-Doutorado |