PRSS1, SPINK1 Mutations and Associated Factors in Vietnamese Patients With Chronic Pancreatitis

Mutations in the PRSS1 and SPINK1 genes are recognized as important risk factors for chronic pancreatitis (CP); however, their clinical relevance in Vietnamese populations remains unclear. This cross-sectional study investigated the prevalence and associated factors of these mutations in Vietnamese CP patients.

CP was diagnosed according to the 2020 American College of Gastroenterology Clinical Guidelines. Genetic analysis was performed via Sanger DNA sequencing. One hundred sixty CP patients were included from December 2022 to June 2024 at Cho Ray Hospital, Vietnam. Pathogenic mutations were identified in 64 patients (40.0%), with SPINK1 mutations found in 36.8% and PRSS1 mutations in 4.4%. The most frequent SPINK1 variants were c.101A>G (23.7%) and c.194+2T>C (14.3%), and their prevalence was highest in idiopathic CP cases. Multivariate logistic regression analysis revealed that younger age (OR: 0.95; 95% CI: 0.92-0.98), diabetes mellitus (OR: 2.55; 95% CI: 1.11-6.04), pancreatic duct stones (OR: 7.08; 95% CI: 2.81-20.40), and prior surgical intervention (OR: 4.14; 95% CI: 1.34-14.10) were independently associated with pathogenic mutations.

These findings suggest a high prevalence of SPINK1 mutations, particularly c.101A>G and c.194+2T>C, among Vietnamese CP patients. The significant factors associated with genetic mutations were younger age, diabetes mellitus, pancreatic duct stones, and prior surgical intervention.