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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.)

Disease-modifying genetic factors in cystic fibrosis

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Author(s):
Marson, Fernando A. L. [1, 2, 3]
Total Authors: 1
Affiliation:
[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
Total Affiliations: 3
Document type: Review article
Source: CURRENT OPINION IN PULMONARY MEDICINE; v. 24, n. 3, p. 296-308, MAY 2018.
Web of Science Citations: 6
Abstract

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)

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: 15/12858-5 - 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