Fernando A L Marson1,2,3. 1. Department of Pediatrics. 2. Center for Research in Pediatrics - Pulmonary Function Laboratory. 3. Department of Medical Genetics, School of Medical Sciences, University of Campinas, São Paulo, Brazil.
Abstract
PURPOSE OF REVIEW: To compile data from the past 10 years regarding the role of modifying genes in cystic fibrosis (CF). RECENT FINDINGS: CF 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. SUMMARY: Studies 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.
PURPOSE OF REVIEW: To compile data from the past 10 years regarding the role of modifying genes in cystic fibrosis (CF). RECENT FINDINGS: CF 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. SUMMARY: Studies 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.
Authors: Carla Cristina Souza Gomez; Fernando Augusto Lima Marson; Maria Fátima Servidoni; Antônio Fernando Ribeiro; Maria Ângela Gonçalves Oliveira Ribeiro; Veruska Acioli Lopes Gama; Eduardo Tavares Costa; José Dirceu Ribeiro; Francisco Ubaldo Vieira Junior Journal: BMC Pulm Med Date: 2018-09-14 Impact factor: 3.317
Authors: Stéphanie Villa-Nova Pereira; José Dirceu Ribeiro; Antônio Fernando Ribeiro; Carmen Sílvia Bertuzzo; Fernando Augusto Lima Marson Journal: Sci Rep Date: 2019-04-17 Impact factor: 4.379
Authors: Joana Rosa; Patrícia Gaspar-Silva; Paula Pacheco; Conceição Silva; Cláudia C Branco; Barbara S Vieira; Alexandra Carreiro; Juan Gonçalves; Luisa Mota-Vieira Journal: BMC Pediatr Date: 2020-01-03 Impact factor: 2.125