Analysis of PRSS1 and SPINK1 Mutations in Korean Patients With Idiopathic and Familial Pancreatitis

Abstract

Objectives: PRSS1 and SPINK1 are 2 important genes in the defense mechanism guarding against the development of pancreatitis. This study aimed to evaluate the prevalence of PRSS1 and SPINK1 mutations and to explore the presence of any ethnic specificity in Korean patients. Methods: A total of 47 patients from 40 families including 37 patients with idiopathic pancreatitis and 10 patients with familial pancreatitis were prospectively enrolled. Fifty healthy controls were included for analysis of SPINK1 IVS3+2T site. Results: PRSS1 mutations were observed in 6 patients from 2 families and SPINK1 mutations in 13 patients from 11 families, respectively. In case of SPINK1 mutations, N34S and IVS3+2T>C were identified in 3 and 11 patients, respectively, including one with compound N34S/IVS3+2T>C heterozygote. The prevalence of SPINK1 IVS3+2T>C mutations was 26.8% among 41 patients without PRSS1 mutations, whereas the prevalence among 50 healthy controls was 0%. Only PRSS1 R122H was identified. Late onset of symptoms at the age of 36 years and absence of symptoms at the age of 47 years were observed in 2 patients with PRSS1 mutations. Conclusions: PRSS1 and SPINK1 mutations were not rare in Korean patients with idiopathic and familial pancreatitis. SPINK1 IVS3+2T>C was a prevalent mutation in this population.