| Texto completo | |
| Autor(es): |
Marson, Fernando A. L.
[1, 2, 3]
Número total de Autores: 1
|
| Afiliação do(s) autor(es): | [1] Univ Estadual Campinas, Sch Med Sci, Dept Pediat, Sao Paulo - Brazil
[2] Univ Estadual Campinas, Sch Med Sci, Ctr Res Pediat, Pulm Funct Lab, Sao Paulo - Brazil
[3] Univ Estadual Campinas, Sch Med Sci, Dept Med Genet, Sao Paulo - Brazil
Número total de Afiliações: 3
|
| Tipo de documento: | Artigo de Revisão |
| Fonte: | CURRENT OPINION IN PULMONARY MEDICINE; v. 24, n. 3, p. 296-308, MAY 2018. |
| Citações Web of Science: | 6 |
| Resumo | |
Purpose of reviewTo compile data from the past 10 years regarding the role of modifying genes in cystic fibrosis (CF).Recent findingsCF is a model disease for understanding of the action of modifying genes. Although it is a monogenic (CFTR) autosomal recessive disease, CF presents with wide phenotypic variability. In CF, variability occurs with different intensity among patients by each organ, being organ-specific, resulting from the mutual interaction of environmental and genetic factors, including CFTR mutations and various other genes, most of which are associated with inflammatory processes. In individuals, using precision medicine, gene modification studies have revealed individualized responses to drugs depending on particular CFTR mutations and modifying genes, most of which are alternative ion channels.SummaryStudies of modifying genes in CF allow: understanding of clinical variability among patients with the same CFTR genotype; evaluation of precision medicine; understanding of environmental and genetic effects at the organ level; understanding the involvement of genetic variants in inflammatory responses; improvements in genetic counseling; understanding the involvement of genetic variants in inflammatory responses in lung diseases, such as asthma; and understanding the individuality of the person with the disease. (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: | 15/12858-5 - 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 |