Korean J Pancreas Biliary Tract.  2018 Apr;23(2):49-53. 10.15279/kpba.2018.23.2.49.

The Role of Genetic Mutation in the Pathogenesis of Pancreatitis

Affiliations
  • 1Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • 2Liver Research Institute, Seoul National University College of Medicine, Seoul, Korea.
  • 3Department of Internal Medicine, Dongguk University Ilsan Hospital, Goyang, Korea. jeromee1971@yahoo.co.kr

Abstract

10–30% of patients with pancreatitis can be categorized as idiopathic pancreatitis, and some of them may be due to genetic alterations. Since hereditary pancreatitis develops from pediatric patients with symptoms related to pancreatitis, which usually progresses to chronic pancreatitis around 30 years of age, special attention should be paid to the development of pancreatic cancer in such patients. Up to now, there have been more than 30 genetic alterations associated with pancreatitis. Alterations in protease serine 1 (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR) and chymotrypsin C (CTRC) are common, which show diversity according to race and region. It is important to understand the characteristics of Korean patients with idiopathic pancreatitis through genetic studies. The purpose
of this article is to review the role of genetic variations in the pathophysiology of idiopathic pancreatitis and to survey the results of Korean studies of idiopathic pancreatitis.

Keyword

Pancreatitis; Genetic mutation; Next generation sequencing; Whole exome sequencing; Hereditary pancreatitis
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