|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPINK1 c.194+2T>C mutation had a higher occurrence in juvenile ICP patients than in adult group and typically presented with recurrent acute pancreatitis.
|
28348582 |
2017 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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 pancreatitis identified to date.
|
28556356 |
2017 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PRSS1 (R122H) mutations were detected in one (1.3%) patient with ICP and SPINK1 (N34S) mutations were present in one (4.1%) patient with ACP.
|
29641165 |
2017 |
|
Idiopathic chronic pancreatitis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis.
|
26632706 |
2015 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The serine protease inhibitor Kazal type 1 c.194+2T>C variant was present in 44.9% of patients with idiopathic chronic pancreatitis.
|
23017645 |
2013 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of cationic trypsinogen (PRSS1) and serine protease inhibitor, Kazal type 1 (SPINK1) gene mutations in Polish patients with alcoholic and idiopathic chronic pancreatitis.
|
20676769 |
2011 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tropical pancreatitis associates with SPINK1 and/or CFTR gene mutations in approximately 50% of patients, similar to the frequency in idiopathic chronic pancreatitis.
|
21844753 |
2011 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants significantly increases the risk of ICP.
|
20977904 |
2011 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Idiopathic chronic pancreatitis in India: phenotypic characterisation and strong genetic susceptibility due to SPINK1 and CFTR gene mutations.
|
20551465 |
2010 |
|
Idiopathic chronic pancreatitis
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings indicate that PSTI is a modifier gene for CFTR-related ICP and have implications for the diagnosis and pathogenesis of pancreatitis.
|
15758663 |
2005 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous SPINK1 mutations were detected in eight ICP patients (15% v 1% in controls) but only one also carried an additional mild CFTR mutation.
|
15987793 |
2005 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Research has focussed on the SPINK1-N34S-mutation, which is closely associated with tropical, alcoholic, or "idiopathic" chronic pancreatitis.
|
15567996 |
2004 |
|
Idiopathic chronic pancreatitis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Identification of SPINK1 mutations in 12.2% of patients with adult alcoholic and idiopathic chronic pancreatitis suggests an important role for SPINK1 as a predisposing factor in adult chronic pancreatitis.
|
11950817 |
2002 |
|
Idiopathic chronic pancreatitis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.
|
11938439 |
2002 |
|
Idiopathic chronic pancreatitis
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings indicate that PSTI is a modifier gene for CFTR-related ICP and have implications for the classification, diagnosis, and pathogenesis of pancreatitis.
|
12227654 |
2002 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, an association between the mutation N34S in the pancreatic secretory trypsin inhibitor (SPINK1 or PSTI) gene and idiopathic chronic pancreatitis (ICP) was reported.
|
11950815 |
2002 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This article presents the existing data on SPINK1 mutations in idiopathic chronic pancreatitis, familial pancreatitis, hereditary pancreatitis and tropical pancreatitis.
|
12120224 |
2001 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since SPINK1 mutations in Europeans and North Americans are associated with idiopathic chronic pancreatitis that is phenotypically different from FCPD, we further conclude that mutated SPINK1 markedly increases the risk of developing a variety of pancreatic diseases possibly through a chronic elevation of active trypsin within the pancreas.
|
12120202 |
2001 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the last few years, several genes have been identified as being associated with hereditary and idiopathic chronic pancreatitis (CP), i.e.PRSS1, CFTR and SPINK1.
|
12120220 |
2001 |
|
Idiopathic chronic pancreatitis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.
|
10982753 |
2000 |