SPINK1 and CFTR Mutation Patterns and Their Correlation with Clinical Features in Iranian Patients with Chronic Pancreatitis

Abstract

Background:

 In cases of chronic pancreatitis, a set of behavioral, genetic, and environmental factors are involved. The SPINK1 and CTFR genes are important genetic factors, but they might have different patterns in different regions. There are only few studies conducted to investigate the prevalence of these mutations, especially in Iran. In this study, we determined the prevalence of mutations in SPINK1 and CFTR in patients with chronic pancreatitis in an Iranian referral hospital.

Materials and Methods:

 A total of 56 patients diagnosed with chronic pancreatitis (based on the criteria of the American Pancreatic Association) were included in this cross-sectional study. Using specific primers for the CFTR exon 11 and SPINK1 exon 3, two conventioan PCRs were performed, and products were examined by nucleotide sequencing. The raw data were edited with bioinformatics software against the reference sequence. Mutated samples were added to the patient data file and analyzed with the rest of the variables in SPSS software.

Results:

 Among the 56 patients, the average age±SD of the patients was 48.1±14.9 years, 20 were women (35.7%), 44 (78.6%) were ever-smokers and 25 people (44.6%) had a history of long-term alcohol consumption. According to the results of mutation analysis, seven people (12.5%) had CFTR gene mutation (F508del and Gly469Asp), three people (5.4%) had SPINK1 gene mutation (S34N), and one person (1.8%) had both CFTR and SPINK1 gene mutation. The average age and other demographical data of mutated people were not statistically different from other patients. CFTR mutation was observed more in men (85.7%), smokers (85.7%), with gallstones (57.1%), and in people with SPINK1 mutation, it was seen more in ever-smoking patients, diabetics, and those with gallstones, and family history of acute pancreatitis (2/3; 66.7%).

Conclusions:

We observed S34N and F508del mutations in the SPINK1 and CFTR genes are associated with chronic pancreatitis, which is in agreement with previous studies. The younger age, smoking, gallstone, and diabetes are probable risk factors for chronic pancreatitis. The limited sample size, lack of a control group, and small number of examined exons may affect our findings and significant results.