Since the discovery of the first trypsinogen mutation in families with hereditary pancreatitis,
pancreatic genetics has made rapid progress. The identification of mutations in genes …

Genetic investigations have provided unique insight into the mechanism of chronic
pancreatitis in humans and firmly established that uncontrolled trypsin activity is a central …

Chronic pancreatitis is a persistent inflammation of the pancreas that results in irreversible
morphological changes and impairment of both exocrine and endocrine functions. Genetic …

Tumor-associated trypsin inhibitor (TATI)[also called serine peptidase inhibitor Kazal type1,
SPINK1 and, in the pancreas, pancreatic secretory trypsin inhibitor (PSTI)] inhibits trypsin …

Background and aims The SPINK1 c. 194+ 2T> C variant has been increasingly recognized
as an important risk factor for chronic pancreatitis (CP). However, there is no clear …

We previously identified a homozygous Alu insertion variant (Alu_Ins) in the 3′-
untranslated region (3′-UTR) of SPINK1 as the cause of severe infantile isolated exocrine …

The haplotype harboring the SPINK1 c. 101A> G (p. Asn34Ser) variant (also known as
rs17107315: T> C) represents the most important heritable risk factor for idiopathic chronic …

Tropical calcific pancreatitis (TCP) is a form of chronic non-alcoholic pancreatitis initially
reported in the developing parts of the tropical world. The clinical phenotype of TCP has …

Downloaded from by BhDMf5ePHKbH4TTImqenVA+ lpWIIBvonhQl60EtgtdlLYrLzSPu+
hUapVK5dvms8 on 12/07/2023 gene expression. 10 The Y81C9T variant was reported in …

Chronic pancreatitis is a progressive inflammatory disorder of the pancreas, which often
develops as a result of genetic predisposition. Some of the most frequently identified risk …