Mutations N34S and P55S of the SPINK1 gene in patients with chronic pancreatitis or pancreatic cancer and in healthy subjects: A report from Finland

• Published in: Scandinavian journal of gastroenterology 2005-02, Vol.40 (2), p.225-230
• Main Authors: Lempinen, Marko, Paju, Annukka, Kemppainen, Esko, Smura, Teemu, Kylänpää, Marja-Leena, Nevanlinna, Heli, Stenman, Jakob, Stenman, Ulf-Håkan
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Carrier Proteins - genetics; Chronic Disease; Chronic pancreatitis; Female; Finland; Gastroenterology. Liver. Pancreas. Abdomen; Humans; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Male; Medical sciences; Middle Aged; Mutation; Other diseases. Semiology; pancreatic cancer; Pancreatic Neoplasms - genetics; Pancreatitis - genetics; PSTI, SPINK1; Trypsin Inhibitor, Kazal Pancreatic
• ISSN: 0036-5521; 1502-7708
• DOI: 10.1080/00365520510011560

Objective Mutations in the Kazal type 1 serine protease inhibitor (SPINK1) gene have recently been associated with chronic pancreatitis (CP), an established risk factor for pancreatic cancer. The aim of this study was to investigate the frequency of the SPINK1 gene mutations (N34S and P55S) in patients with CP, or pancreatic cancer, and in healthy subjects in Finland. Material and methods The N34S and P55S mutations were determined by PCR amplification followed by solid-phase minisequencing in 116 patients with CP and in 188 with pancreatic cancer. In patients with CP, alcohol was the aetiological factor in 87 (75%), pancreas divisum in 4 (3%), gallstones in 5 (5%) and 20 patients (17%) had an idiopathic disease; 459 healthy individuals were enrolled as controls. Results The frequency of the N34S mutation was significantly higher in patients with CP (14/116, 12%) than in controls (12/459, 2.6%) (p