Pancreatic Insufficiency in Cystic Fibrosis

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.