Genetic study of SPINK1 and PRSS1 in idiopathic chronic pancreatitis and allele frequencies of SPINK1 and PRSS1 in the southern Thai population.

Certain cases of chronic pancreatitis (CP) occur without an apparent causative factor, diagnosed as idiopathic CP (ICP). Several studies have reported that ICP was associated with mutations in the SPINK1 and PRSS1 genes, but the studies were not conclusive as these polymorphisms can also occur in healthy individuals. In the present study, we aimed to study the genotypes of SPINK1 and PRSS1. Our study recruited nine ICP patients having no known risk factors. Symptoms relating to ICP were recorded. Genetic studies were performed in all ICP patients and 230 healthy controls. SPINK1 mutations in cases and controls were genotyped by genotyping assay. The entire PRSS1 gene was sequenced in all cases and controls to look for any mutations. Statistical analysis of genotypes and minor allele frequencies (MAF) was performed. All of the 9 ICP patients had SPINK1 mutations. The SPINK1 N34S heterozygous mutation (MAF 2.17%) was detected in 10 out of 230 controls, while the IVS3+2T>C mutation was not detected in any. PRSS1 mutations were detected in no cases or controls. In summary, SPINK1 mutations were associated with ICP. SPINK1 N34S carrier status was found in the general population with low prevalence, while IVS3+2T>C was rarely found in the controls. [ABSTRACT FROM AUTHOR]