Introduction: Mutations in the CFTR gene may be associated with various types
of pancreatic pathology and result in higher risk of pancreatic disorders.
While delta F508 is the most common mutation in cystic fibrosis patients, the
allel 5T is associated with atypical forms of cystic fibrosis. Study aim: The
aim of this study was to establish the frequencies of F508del mutation and 5T
allele in the CFTR gene in patients with chronic pancreatitis and pancreatic
cancer, as well as to investigate whether these genetic variants represent
risk factors for pancreatic diseases. Study methods: The study has
encompassed 50 patients with chronic pancreatitis and 50 patients with
pancreatic adenocarcinoma, as well as 124 healthy individuals. The analysis
of F508del mutation and alleles 5T, 7T and 9T of the polythymidine tract was
performed on DNA extracted from periferal blood by PCR-mediated site-direted
mutagenesis (PSM) method. Results: The frequency of F508del mutation in the
group of patients with chronic pancreatitis (3.0%) was significantly
increased (p=0.032) in comparison to the group of healthy individuals (0.4%),
while other analyzed differences were not statistically significant.
Conclusion: The results of this study indicate that F508del mutation in the
CFTR gene respresents a risk factor for the development of chronic
pancreatitis.
Genetic Variants, Fat Malabsorption, and Ancestral Background in a Small Chronic Pancreatitis Cohort
