A negative screening of rare genetic variants in the ADIPOQ and STATH genes in cystic fibrosis

Autor(es)

Coutinho, C. A. A. C. ^[1] ; Marson, F. A. L. ^{[2, 1, 3]} ; Ribeiro, J. D. ^[2] ; Bertuzzo, C. S. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Sch Med Sci, Dept Med Genet & Genom Med, POB 6111, BR-13081970 Campinas, SP - Brazil

^[2] Univ Estadual Campinas, Sch Med Sci, Dept Pediat, POB 6111, BR-13081970 Campinas, SP - Brazil

^[3] Sao Francisco Univ, Post Grad Program Hlth Sci, Ave Sao Francisco de Assis 218, BR-12916900 Braganca Paulista, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: PULMONOLOGY; v. 26, n. 3, p. 138-144, MAY-JUN 2020.
• Citações Web of Science: 0

Resumo

Background: The phenotypic variability in cystic fibrosis (CF) is widely recognized and modulated by environmental and genetic factors, including CFTR pathogenic variants and modifier genes genetic variants. In this context, determining the presence of variants in genes involved in immune response may allow a better understanding of CF variability, mainly in lung disease. Thus, ADIPOQ and STATH genes were selected and the analysis of exons and exon/intron junctions was performed for the determination of variations in its sequence, to determine the possible genetic modulation. Methods: A total of 49 patients with CF, diagnosed for showing abnormal {[}chloride] levels in the sweat test, and identification of two pathogenic variants in CFTR categorized as class I and II were included. Genetic sequencing was performed for the identification of variants in the modifier genes. Results: In our analysis, there was absence of rare genetic variants in STATH and ADIPOQ genes associated with the clinical variability. Thus, we are not able to establish an association between the disease severity and rare genetic variants in STATH and ADIPOQ genes, considering exons and exon/intron junctions. Conclusions: Considering the negative screening for rare genetic variants in ADIPOQ and STATH genes, it may be concluded that these genes are not associated with phenotypic modulation of CF in our population. To understand the modifier genes and its action at CF variability it is essential to promote a better overview of the disease. Also, negative reports can help to direct new studies without the use of unnecessary financial support. (C) 2019 Sociedade Portuguesa de Pneumologia. Published by Elsevier Espana, S.L.U. (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