SPINK1 Genetic Variants in Pancreatitis.
DOI:
https://doi.org/10.69734/tbx0n188Keywords:
pancreatitis , spink1 , genetic variants, pancreatic cancer, chronic pancreatitis, genetics, PRSS1, trypsin inhibitor, genetic counseling, medical genetics, precision medicineAbstract
Genetic variants disrupting the expression or function of the Serine Protease Inhibitor, Kazal Type 1 (SPINK1) gene—encoding the pancreatic secretory trypsin inhibitor (PSTI, also called SPINK1)—elevate the risk of pancreatitis and pancreatic cancer. This review elucidates SPINK1’s role as a key inhibitor of active trypsin, detailing its protective mechanism alongside other regulatory factors. We emphasize human SPINK1 variants, spotlighting the high-risk haplotype tagged by p.N34S (Table 1) and other risk, predisposing or pathogenic variants (Table 2). Additionally, we explore the conditions and co-factors—genetic and environmental—that trigger acute pancreatitis (AP) and progression to chronic pancreatitis (CP), providing a comprehensive framework for understanding SPINK1’s clinical significance
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