Abstract
Genetic mutations are one of the etiological factors that predispose people to develop chronic pancreatitis. The aim of our study was to examine the effect of p.Trp55*, p.Arg254Trp and c.738_761del mutations in the chemotrypsin gene (CTRC) on the development of alcoholic chronic pancreatitis (ACP) in order to answer the questions whether these mutations vary between gender groups, whether they were related to the age when ACP was first diagnosed, and whether they affected the morphological changes in the pancreas and the course of ACP. The study included 124 patients with ACP, 52 with nonalcoholic pancreatitis and 52 controls. The p.Trp55*, c.738_761del and p.Arg254Trp mutations in the CTRC gene were tested by the polymerase chain reaction (PCR). The c.738_761del and p.Arg254Trp mutations occurred in 3.07% and 1.31% of cases, respectively. None of the examined patients were found to have the p.Trp55* mutation. The frequency of detected mutations did not significantly differ between the study groups. The c.738_761del mutation was detected more frequently in women than in men. No significant differences were found in the age at ACP onset, morphological changes affecting the pancreas, or in the course of ACP between the patients with and without the 2 examined mutations. The c.738_761del mutation was significantly more frequent in the diabetic patients than in the non-diabetics. The patients with this mutation more frequently required surgery than those without the c.738_761del mutation. No relationship between the c.738_761del and p.Arg254Trp mutations and the development of APC was found. The c.738_761del mutation was more frequent in females than in males. Neither mutation affected the patient's age at ACP onset or its course. In contrast to p.Arg254Trp, the c.738_761del mutation correlated with diabetes development and the need for surgery in the course of ACP.
Highlights
Chronic pancreatitis (CP) can present as recurrent episodes of acute inflammation or as progressive inflammatory conditions that result in fibrosis, calcification or altered morphology of the pancreas, the consequence of which is endocrine and exocrine failure of the organ.[1,2] Global annual incidence rates of CP range from 5 to 12 cases per 100,000 people; the prevalence of CP is about 50 cases per 100,000 people.[3]
The aim of our study was to examine the effect of p.Trp55*, p.Arg254Trp and c.738_761del mutations in the chemotrypsin gene (CTRC) on the development of alcoholic chronic pancreatitis (ACP) in order to answer the questions whether these mutations vary between gender groups, whether they were related to the age when ACP was first diagnosed, and whether they affected the morphological changes in the pancreas and the course of ACP
The study group was comprised of a homogenous Caucasian ethnic group of 228 patients, including 124 with ACP, 52 with nonalcoholic CP (NCP), and 52 healthy volunteers who made up the control group
Summary
Chronic pancreatitis (CP) can present as recurrent episodes of acute inflammation or as progressive inflammatory conditions that result in fibrosis, calcification or altered morphology of the pancreas, the consequence of which is endocrine and exocrine failure of the organ.[1,2] Global annual incidence rates of CP range from 5 to 12 cases per 100,000 people; the prevalence of CP is about 50 cases per 100,000 people.[3] The disease occurs with a varied geographic distribution. In developed and western European countries, CP is generally due to alcohol consumption (38% of men and 11% of women). In the USA, Italy and Denmark, more than 50% of cases are alcohol-related, but in Brazil, the proportion reaches 89.6%.4,5. Alcohol consumption has been increasing in developing countries (China and India) due to rapid urbanization and increased affluence; this rise is expected to increase the burden of alcoholrelated pancreatitis in these countries.[6]. Genetic mutations are one of the etiological factors that predispose people to develop chronic pancreatitis
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