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

• Published in: BMC gastroenterology Vol. 17; no. 1; p. 13
• Main Authors: Koziel, Dorota, Gluszek, Stanislaw, Kowalik, Artur, Chlopek, Malgorzata
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 17.01.2017; BioMed Central
• Subjects: Acute Disease; Carrier Proteins - genetics; Case-Control Studies; Chymotrypsin - genetics; Female; Gastroenterology; Genetic aspects; Genetic polymorphisms; Genetic Predisposition to Disease; Genotype; Health aspects; Humans; Male; Middle Aged; Mutation; Pancreatitis; Pancreatitis - genetics; Polymorphism, Genetic; Severity of Illness Index; Trypsin Inhibitor, Kazal Pancreatic; Etiology; CTRC polymorphism; Acute pancreatitis
• ISSN: 1471-230X; 1471-230X
• DOI: 10.1186/s12876-016-0566-5

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