Work

SPINK1 Genetic Variants in Pancreatitis.

Year: 2025

Type: article

Abstract: 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

Source: SMART-MD journal of precision medicine.

DOI: 10.69734/tbx0n188

Authors: Maham Waqar, David Whitcomb, Vinciane Rebours

Institutions: King Edward Medical University, University of Pittsburgh, Université Paris Cité, Hôpital Beaujon, Assistance Publique – Hôpitaux de Paris

Language: English

Topic: Pancreatitis Pathology and Treatment

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4409015859

FWCI:

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