PRSS1 and SPINK1 Mutations in Alcoholic and Idiopathic Chronic Pancreatitis

Several recent studies have reported associations between gene mutations and chronic pancreatitis (CP); however, little is known about their association with risk of CP in the Chinese Han population. The aim of this study was to describe mutations in the cationic trypsinogen (PRSS1) and serine protease inhibitor Kazal type 1 (SPINK1) genes in patients with alcoholic chronic pancreatitis (ACP) and idiopathic chronic pancreatitis (ICP) and to investigate their influence on the clinical course of the disease. One hundred patients (24 with ACP, 76 with ICP) and 100 healthy volunteers (control group) were enrolled in the study. PRSS1 (R122H) mutations were detected in one (1.3%) patient with ICP and SPINK1 (N34S) mutations were present in one (4.1%) patient with ACP. PRSS1 and SPINK1 mutations were not detected in the control populations. There were no statistically significant differences between the CP patients and the control group. Those preliminary data suggest low prevalence of SPINK1 and PRSS1 mutations in the Chinese population, generally, as well as in CP patients, indicating that these mutations do not contribute to the development of CP.