Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis (original) (raw)

AI-generated Abstract

This study investigates the association of PRSS1 and SPINK1 gene mutations with hereditary and non-hereditary chronic pancreatitis in a large cohort of patients from India. Findings indicate an absence of PRSS1 mutations among patients, regardless of pancreatitis type, whereas mutations in the SPINK1 gene, particularly the N34S variant, were found prevalent among hereditary (73%), alcoholic (26.8%), and idiopathic (32.5%) chronic pancreatitis patients. This suggests a potential genetic predisposition towards pancreatitis in the Indian population distinct from Western findings, with implications for patient management and prevention.