Investigation of the PRSS1 and SPINK1 genes in patients with autoimmune pancreatitis from Germany

Introduction: Genetic mutations in the PRSS1, SPINK1 and CFTR genes have been associated with chronic pancreatitis. The frequency of genetic variations in these genes has not been determined in patients with autoimmune pancreatitis (AiP) from Germany.

Objectives: To identify the frequency of PRSS1 and SPINK1 mutations in patients with AiP from Germany.

Methods: Mannheim AiP Diagnostic Criteria define „definite“, „probable“ and „possible“ AiP. „Mannheim Definite AiP“ is diagnosed in patients fullfilling Mayo HISORt or Asian AiP Criteria; or simultaneously presenting with pancreatic disease, other autoimmune disease and/or elevated autoantibodies, and disease response to steroids. „Mannheim Probable AiP“ is diagnosed with pancreatic disease, elevated IgG4 and/or other autoantibodies, and other autoimmune disease. „Mannheim Possible AiP“ is diagnosed with pancreatic disease and either elevated IgG4 and/or other autoantibodies, or other autoimmune disease. Patients with non-alcoholic pancreatitis from our clinic (1997–2009) were studied. Exons 2 and 3 of the PRSS1 gene and the entire coding region of the SPINK1 gene were investigated by direct DNA sequencing in patients with „Mannheim Definite AiP“ in which DNA was available.

Results: We detected „Mannheim Definite AiP“ in n=21 patients. Genetic testing of the PRSS1 and SPINK1 genes was performed in n=14/21 patients. We found a heterozygous SPINK1 N34S mutation in n=2/14 (14%) patients. We did not detect a genetic variation in the PRSS1 gene.

Conclusions: Genetic mutations in the SPINK1 gene are found in patients with AiP and may predispose to the development of the disease.