SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis

RH Pfützer, MM Barmada, APJ Brunskill, R Finch… - Gastroenterology, 2000 - Elsevier
Background & Aims: Gain-of-function trypsin mutations cause acute pancreatitis and chronic
pancreatitis. Loss of trypsin inhibitor function may have similar effects. We investigated the …

The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease

J Threadgold, W Greenhalf, I Ellis, N Howes, MM Lerch… - Gut, 2002 - gut.bmj.com
Background: Mutations in the PRSS1 gene explain most occurrences of hereditary
pancreatitis (HP) but many HP families have no PRSS1 mutation. Recently, an association …

SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh: a preliminary report

L Rossi, RH Pfützer, S Parvin, L Ali, S Sattar, AKA Kahn… - Pancreatology, 2001 - Elsevier
Abstract Background/Aims: Tropical pancreatitis (TP) refers to a severe type of idiopathic
chronic pancreatitis that develops in children in tropical regions of Africa and southern Asia …

Natural history of SPINK1 germline mutation related-pancreatitis

N Muller, I Sarantitis, M Rouanet, L de Mestier… - …, 2019 - thelancet.com
Background The aim was to describe genetic, clinical and morphological features in a large,
multicentre European cohort of patients with SPINK1 related pancreatitis, in comparison with …

Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis

É Kereszturi, O Király, M Sahin-Toth - Gut, 2009 - gut.bmj.com
Background and aims: Two common haplotypes of the serine protease inhibitor Kazal type 1
(SPINK1) gene have been shown to increase the risk for chronic pancreatitis. A haplotype …

Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene

A Boulling, C Le Maréchal, P Trouvé… - European Journal of …, 2007 - nature.com
Variations in the SPINK1 gene (encoding pancreatic secretory trypsin inhibitor (PSTI)) are
associated with chronic pancreatitis. We have recently determined the functional …

SPINK1, PRSS1, CTRC, andCFTRGenotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis

WB Zou, XY Tang, DZ Zhou, YY Qian… - Clinical and …, 2018 - journals.lww.com
Objectives: Rare pathogenic variants in the SPINK1, PRSS1, CTRC, and CFTR genes have
been strongly associated with a risk of developing chronic pancreatitis (CP). However, their …

SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh

A Schneider, A Suman, L Rossi, MM Barmada… - Gastroenterology, 2002 - Elsevier
Background & Aims: Tropical pancreatitis, including tropical calcific pancreatitis and
fibrocalculous pancreatic diabetes, is endemic in parts of Asia and Africa. In a preliminary …

Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis

O Király, A Boulling, H Witt, C Le Maréchal… - Human …, 2007 - Wiley Online Library
Variants of the SPINK1 gene encoding pancreatic secretory trypsin inhibitor have been
described in association with chronic pancreatitis (CP). These alterations are believed to …

Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis

GR Chandak, MM Idris, DN Reddy, KR Mani… - Gut, 2004 - gut.bmj.com
Background and aims: Mutations in the cationic trypsinogen (protease, serine, 1 (trypsin 1);
PRSS1) gene are causally associated with recurrent acute and chronic pancreatitis. We …