title: CTRC gene polymorphism (p.G60=; c.180 C > T) in acute pancreatitis.
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.
authors.affiliation: Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland. dorota.koziel@wp.pl.
authors.forename: Dorota
authors.initials: D
authors.lastname: Koziel
authors.affiliation: Faculty of Medicine and Health Sciences, Jan Kochanowski University, Kielce, Poland.|Clinic General Oncological and Endocrinological Surgery, Regional Hospital, Kielce, Poland.
authors.forename: Stanislaw
authors.initials: S
authors.lastname: Gluszek
authors.affiliation: Department of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland.
authors.forename: Artur
authors.initials: A
authors.lastname: Kowalik
authors.affiliation: Department of Molecular Diagnostics, Holy Cross Cancer Centre, Kielce, Poland.
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Chlopek
mesh_terms: D000208:Acute Disease; D002352:Carrier Proteins / Q000235:genetics; D016022:Case-Control Studies; D002918:Chymotrypsin / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010195:Pancreatitis / Q000235:genetics*; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic; D002918:Chymotrypsin; C117569:chymotrypsin C
keywords: Acute pancreatitis; CTRC polymorphism; Etiology