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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.)

Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes

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Author(s):
Lima Marson, Fernando Augusto [1, 2] ; Bertuzzo, Carmen Silvia [2] ; de Araujo, Tania Kawasaki [2] ; Russo Hortencio, Tais Daiene [1] ; Ribeiro, Antonio Fernando [1] ; Ribeiro, Jose Dirceu [1]
Total Authors: 6
Affiliation:
[1] Univ Estadual Campinas, Sch Med Sci, Dept Pediat, Rua Tessalia Vieira de Camargo 126, BR-13083887 Campinas, SP - Brazil
[2] Univ Estadual Campinas, Sch Med Sci, Dept Med Genet, Rua Tessalia Vieira de Camargo 126, BR-13083887 Campinas, SP - Brazil
Total Affiliations: 2
Document type: Journal article
Source: PANCREAS; v. 47, n. 1, p. 99-109, JAN 2018.
Web of Science Citations: 2
Abstract

Objective Pancreatic insufficiency (PI) in cystic fibrosis (CF) patients is a crucial clinical marker for severity and disease progression. In our study, 125 modifier genes and their SNPs were associated between CF patients with PI or pancreatic sufficiency. Methods We prospectively evaluated 214 CF patients admitted at 1 hospital for a 2-year period. The PI status was associated with clinical variables and SNPs related with inflammatory response considering CFTR mutations. Open Array technique was used to perform the SNPs identification. Results For PI risk, after correction by multiple test, in CF patients and 2 CFTR mutations class I, II, and/or III, there were 6 SNPs with positive association (P < 0.005). The odds ratio amplitude was 0.087 (95% confidence interval {[}CI], 0.004-0.544) for rs9870255{*}CG (CTNNB1 gene) to 11.06 (95% CI, 1.746-252.3) for rs729302{*}AA (IRF5 gene). For all CF patients at the same time, 9 SNPs showed positive association. The odds ratio amplitude was 0.144 (95% CI, 0.028-0.602) for rs2348071{*}AA (PSMA3 gene) to 5.809 (95% CI, 1.536-37.54) for rs11702779{*}AA (RUNX1 gene). In our data, we observed the interaction between CFTR mutations, rs9870255{*}CTNNB1, rs9378805{*}IRF4, and rs7664617{*}KCNIP4 to PI status. Conclusions Multiple SNPs in inflammatory response genes showed association with PI considering the CFTR mutations screening. (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
FAPESP's process: 15/12183-8 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia
Grantee:Jose Dirceu Ribeiro
Support type: Regular Research Grants
FAPESP's process: 11/18845-1 - Association between polymorphisms in modifier genes in children and adolescent with allergic and non-allergic mild, moderate and severe asthma
Grantee:Jose Dirceu Ribeiro
Support type: Regular Research Grants