Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes

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]

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

• 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 Opportunities: Scholarships in Brazil - 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 Opportunities: 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 Opportunities: Regular Research Grants
• 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 Opportunities: Scholarships in Brazil - Post-Doctoral