CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis

BMC Gastroenterol. 2017 Jan 17;17(1):13. doi: 10.1186/s12876-016-0566-5.

Abstract

Background: The aim of the study was to determine the relationship between the presence of p.G60 = polymorphism (c.180C > T; rs497078) CTRC and the incidence together with the clinical course of acute pancreatitis (AP).

Methods: Two hundred ninety-nine people suffering from AP and 417 healthy volunteers were subjected to the study. DNA was isolated from blood samples.

Results: CTRC p.G60 = polymorphism (c.180C > T) occurred more frequently in the AP group (p = 0.015). The CT and TT genotype was found in 27.8% of the AP patients and in 19.9% of the healthy subjects (p = 0.017). No significant correlation was found between having the CT and TT genotype and the severity of the AP clinical course. In 6 patients (2%) with the CT genotype, a SPINK1 gene mutation was found, while in the control group it was found in 3 patients (0.7%), (p > 0.05). All patients with the present SPINK1 mutation with the CT genotype had a moderate or a severe course of the disease (p = 0.0007).

Conclusions: CTRC polymorphism Hetero p.G60=; c.180C > T increases the risk of an AP occurrence and together with the SPINK 1 mutation, may be responsible for a more severe course of the disease.

Keywords: Acute pancreatitis; CTRC polymorphism; Etiology.

MeSH terms

  • Acute Disease
  • Carrier Proteins / genetics
  • Case-Control Studies
  • Chymotrypsin / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pancreatitis / genetics*
  • Polymorphism, Genetic*
  • Severity of Illness Index
  • Trypsin Inhibitor, Kazal Pancreatic

Substances

  • Carrier Proteins
  • SPINK1 protein, human
  • Trypsin Inhibitor, Kazal Pancreatic
  • Chymotrypsin
  • chymotrypsin C