Pancreatitis is a complex disease with varied aetiology and clinical course. Genetic factors, in combination with environmental factors, may play a considerable role in the development of pancreatitis. Genetic studies may help in understanding the transition from acute pancreatitis to recurrent acute pancreatitis and progression to the chronic state. Various groups of genetic mutations may play a role in the pathogenesis of pancreatitis. Mutations in the cationic trypsinogen gene (PRSS1), anionic trypsinogen (PRSS2), the pancreatic secretory trypsin inhibitor gene (SPINK1), cystic fibrosis transmembrane conductance regulator gene (CFTR), chymotrypsinogen gene (CTRC), calcium-sensing receptor gene (CASR), and the protein claudin-2 (CLDN2) were found in different types of pancreatitis. The presented study demonstrates the role of the best recognised genetic mutations in the development of acute and chronic pancreatitis.

Summing up: Identification of patients with pathogenic genetic variants may change the approach to the factors related with lifestyle, such as alcohol consumption and cigarette smoking, and prevent or delay the occurrence of pancreatitis.