|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexican pediatric patients with acute and recurrent pancreatitis.
|
22699143 |
2012 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
The prevalence of the SPINK-1/N34S mutation in patients with CP is 5.4%, and is approximately 37.1% in patients with IP.
|
21375584 |
2011 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Approximately 15-40% of patients with so-called idiopathic CP carry p.N34S on one allele or on both alleles.
|
21525753 |
2010 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
The two individuals with the N34S mutation did not have any signs of chronic pancreatitis.
|
17613931 |
2007 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
To our knowledge, this is the first reported case of chronic pancreatitis accompanied by pancreatic cancer in a patient with the SPINK1 N34S mutation.
|
15084977 |
2004 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Because the SPINK1 N34S mutation is very common in the general population, it is unlikely that this mutation alone can initiate the development of chronic pancreatitis.
|
15528018 |
2004 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
The frequencies of the promotor polymorphisms of IL10-627A, IL10-1117A, TNF-238A and TNF-308A in patients with alcoholic chronic pancreatitis, idiopathic pancreatitis, SPINK1-N34S-associated chronic pancreatitis and pancreatic cancer did not differ significantly from the control group.
|
14560157 |
2003 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recently, a point mutation (N34S) in the gene encoding the serine protease inhibitor, Kazal type 1 (SPINK1), was found in approximately 20% of patients with CP.
|
12014716 |
2002 |
|
Pancreatitis, Chronic
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results suggested that the -215G>A alteration, as well as the N34S alteration, is a predisposing factor for CP.
|
11355022 |
2001 |
|
Pancreatitis
|
|
0.060 |
GeneticVariation
|
BEFREE |
The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute flares of pancreatitis that might ultimately lead to pancreatic insufficiency.
|
21375584 |
2011 |
|
Pancreatitis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Four of 25 patients with pHPT and pancreatitis carried the N34S missense mutation in the SPINK1 gene (16%), while all 50 controls (pHPT without pancreatitis) showed no mutation in SPINK1 or PRSS1 genes (P < 0.05 vs controls, P < 0.001 vs general population).
|
18076731 |
2008 |
|
Pancreatitis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S and M1T) in the PSTI/SPINK1 gene have been found to correlate significantly with the onset of pancreatitis.
|
17148697 |
2006 |
|
Pancreatitis
|
|
0.060 |
GeneticVariation
|
BEFREE |
Segregation of the N34S mutation in families with pancreatitis is unexplained and points to a complex association between N34S and another putative pancreatitis related gene.
|
11950815 |
2002 |
|
Pancreatitis
|
|
0.060 |
GeneticVariation
|
BEFREE |
The severity of pancreatitis did not differ between TCP patients with or without N34S, or among those heterozygous or homozygous for N34S.
|
12360463 |
2002 |
|
Pancreatitis
|
|
0.060 |
GeneticVariation
|
BEFREE |
The N34S mutation may cause a predisposition to pancreatitis, with incomplete penetrance.
|
11578065 |
2001 |
|
Hereditary pancreatitis
|
|
0.050 |
GeneticVariation
|
BEFREE |
A mutation N34S in the serine protease inhibitor Kazal type 1 gene has also been shown to be linked with HP.
|
17613931 |
2007 |
|
Hereditary pancreatitis
|
|
0.050 |
GeneticVariation
|
BEFREE |
Although this case does not meet the classic criteria of hereditary pancreatitis, it does suggest that the SPINK1 N34S mutation may be associated with cancer development in patients with hereditary pancreatitis.
|
15084977 |
2004 |
|
Hereditary pancreatitis
|
|
0.050 |
GeneticVariation
|
BEFREE |
The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S mutation of SPINK I is the most frequent genetic risk factor associated with IP.
|
11866271 |
2002 |
|
Hereditary pancreatitis
|
|
0.050 |
GeneticVariation
|
BEFREE |
N34S was found in 4/108 affected HP patients (p=0.724 v controls), in 3/27 (11%) with wild-type and in 1/81 (1%) with mutant PRSS1, and 4/67 ACP patients (all p>0.05 v controls).
|
11950815 |
2002 |
|
Hereditary pancreatitis
|
|
0.050 |
GeneticVariation
|
BEFREE |
Nine subjects had the N34S PSTI mutation and 1 had hereditary pancreatitis (R122H, PRSS1).
|
11729110 |
2001 |
|
Idiopathic chronic pancreatitis
|
|
0.040 |
GeneticVariation
|
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
|
|
0.040 |
GeneticVariation
|
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
|
|
0.040 |
GeneticVariation
|
BEFREE |
Cases of SPINK1 mutations, especially N34S, have been reported in a subset of patients with idiopathic chronic pancreatitis.
|
14641934 |
2003 |
|
Idiopathic chronic pancreatitis
|
|
0.040 |
GeneticVariation
|
BEFREE |
The prevalence of the N34S mutation was increased in patients with ICP and was greatest in f-ICP cases.
|
11950815 |
2002 |