Association of SPINK1 Gene Mutation and CFTR Gene Polymorphisms in Patients With Pancreas Divisum Presenting With Idiopathic Pancreatitis

Abstract

Pancreas divisum has been associated with idiopathic pancreatitis. However, the causal association remains controversial. To study the gene mutations in patients with pancreas divisum presenting with idiopathic pancreatitis. All consecutive patients with pancreas divisum presenting with recurrent pancreatitis were included in the study. Fifty healthy volunteers, 30 patients with chronic pancreatitis, and 14 patients with idiopathic recurrent acute pancreatitis without pancreas divisum served as controls. Patients and controls were tested for cationic trypsiongen gene, CFTR gene and SPINK1 gene mutations. Of the 12 patients with pancreas divisum and idiopathic pancreatitis, 4 had SPINK1 N34S gene mutation-3 were heterozygous and 1 was homozygous, and 1 had P55S mutation compared with 1 of 50 healthy controls with N34S mutation (P=0.001). The frequency of SPINK1 mutation was similar among patients with pancreas divisum and pancreatitis (41.6%), chronic pancreatitis (43.3%), and recurrent acute pancreatitis without pancreas divisum (35.7%). Five patients with pancreas divisum had polymorphisms in the CFTR gene. Patients with pancreas divisum presenting with idiopathic pancreatitis had a higher frequency of SPINK1 gene mutation compared with healthy controls, which might be responsible as the sole-factor or a co-factor in causing pancreatitis in them.