|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SPINK1 mutations are associated with the development of acute and chronic pancreatitis and have been detected in all forms of chronic pancreatitis.
|
15749232 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis.
|
15749233 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It arose from recent pancreatitis research that some cases of chronic pancreatitis are associated with mutations of the serine protease inhibitor, Kazal type-1 (SPINK1).
|
15753612 |
2004 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No SPINK1 mutations were found in patients with CP caused by anatomical variations or gallstones.
|
15764155 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing showed homozygous SPINK1-N34S mutation, which is an established risk factor for chronic pancreatitis.
|
15875176 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the serine protease inhibitor (SPINK1) gene have been associated with all forms of chronic pancreatitis.
|
15910626 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have shown an association between the N34S mutation in the serine protease inhibitor Kazal type 1 (SPINK1) gene and chronic pancreatitis (CP).
|
15980664 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A SPINK1 N34S was detected as a heterozygote in one (2.4%) patient with alcoholic chronic pancreatitis and a heterozygote CFTR Q1352H was detected in one other patient.
|
16187186 |
2005 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A cohort of 19 families (n=170) with a history of idiopathic CP (ICP) was screened for mutations within the CASR gene; 104 members of that cohort had a mutation (N34S) within the SPINK1 gene and 66 of those were suffering from CP.
|
16497624 |
2006 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Despite these accomplishments, the understanding of the molecular mechanisms through which PRSS1 and SPINK1 mutations cause chronic pancreatitis has remained sketchy.
|
16632094 |
2006 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PRSS1 mutations were identified mainly in CP patients (9.6% of CP vs 2.5% of ARP alleles, P = 0.094), whereas N34S SPINK1 mutation was present with comparable frequency in CP and ARP patients (7.7% vs 10.0%, P = 0.768).
|
16954950 |
2006 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SPINK1 can inhibit up to 20% of trypsin activity, and may constitute one major mechanism to protect the pancreas from autodigestion.In 2000, Witt et al. first recognized the association between mutations in the SPINK1 gene and chronic pancreatitis (CP), but the significance of SPINK1 gene mutation in pancreatitis and its relation to alcohol consumption remains unclear in Japan.
|
16958672 |
2006 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
We found in 3 (2%) of 172 chronic pancreatitis patients an IVS3 + 2 T > C SPINK1 gene mutation and a base substitution 5'UTR-215 G > A in the same gene copy.
|
16981266 |
2006 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We here examined the prevalence of the serine protease inhibitor Kazal type 1 (SPINK1) gene mutations in Japanese patients with CP, and whether the disease course was different between mutation-positive and -negative patients.
|
17238043 |
2007 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Differential roles of the SPINK1 gene mutations in alcoholic and nonalcoholic chronic pancreatitis.
|
17238043 |
2007 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Variants of the SPINK1 gene encoding pancreatic secretory trypsin inhibitor have been described in association with chronic pancreatitis (CP).
|
17274009 |
2007 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Splicing mutation might represent a mechanism for SPINK1-associated CP, but the N34S mutation is not associated with alternative splicing.
|
17446841 |
2007 |
|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
BEFREE |
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.
|
17489851 |
2007 |
|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
LHGDN |
Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.
|
17525091 |
2007 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.
|
17681820 |
2007 |
|
Pancreatitis, Chronic
|
0.500 |
Biomarker
|
disease |
CTD_human |
Hereditary chronic pancreatitis.
|
18206817 |
2008 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In total, 18 of 93 (19.4%) patients with non-alcoholic CP had at least one SPINK1 mutation.
|
18336671 |
2008 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
SPINK1, ADH2, and ALDH2 gene variants and alcoholic chronic pancreatitis in Japan.
|
18336671 |
2008 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found that SPINK1 N34S is strongly associated with CP overall (OR 11.00; 95% CI: 7.59-15.93), but the effect of SPINK1 N34S in alcoholic CP (OR 4.98, 95% CI: 3.16-7.85) was significantly smaller than in idiopathic CP (OR 14.97, 95% C.I.
|
18414673 |
2008 |
|
Pancreatitis, Chronic
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis.
|
18414673 |
2008 |