|
rs1553134935
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1223231582
|
|
|
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 |
|
rs1223231582
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The two individuals with the N34S mutation did not have any signs of chronic pancreatitis.
|
17613931 |
2007 |
|
rs1223231582
|
|
|
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 |
|
rs1223231582
|
|
|
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 |
|
rs1223231582
|
|
|
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 |
|
rs1223231582
|
|
|
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 |
|
rs1223231582
|
|
|
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 |
|
rs1223231582
|
|
|
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 |
|
rs1223231582
|
|
|
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 |
|
rs1223231582
|
|
|
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 |
|
rs17107315
|
|
|
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 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The two individuals with the N34S mutation did not have any signs of chronic pancreatitis.
|
17613931 |
2007 |
|
rs17107315
|
|
|
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 |
|
rs17107315
|
|
|
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 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Four patients had hereditary pancreatitis (three with confirmed N34S mutation in the SPINK1 gene), one patient had chronic pancreatitis of unknown etiology, and one patient with annular pancreas developed obstructive chronic pancreatitis.
|
24210198 |
2013 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Limited contribution of the SPINK1 N34S mutation to the risk and severity of alcoholic chronic pancreatitis: a report from the United States.
|
12822871 |
2003 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The results demonstrated that 3 of 8 patients with CPPCa (37.5%) had the SPINK 1 gene N34S mutation.
|
19896093 |
2009 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The N34S mutation of the SPINK1 gene seems to be significantly correlated with alcoholic chronic pancreatitis.
|
22751291 |
2012 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs17107315
|
|
|
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 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients with the N34S mutation presented more severe clinical courses, implying that genetic risk assessment might be useful to identify individuals who are likely to develop severe CP, and allow targeted attention to slow or prevent disease progression.
|
17238043 |
2007 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The SPINK1 N34S polymorphism was detected in 5 of 172 (2.9%) patients with chronic pancreatitis, in 4 of 200 (2.0%) patients with sporadic pancreatic adenocarcinoma, in 0 of 36 (0%) of patients with familial pancreatic cancer and in 3 of 177 (1.7%) controls of chronic cholecystitis.
|
14688470 |
2004 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, the frequency of [N34S; IVS1-37T>C] mutation was higher in patients with autoimmune CP (33%).
|
15980664 |
2005 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To test the hypothesis that calcium sensing receptor (CASR) polymorphisms are associated with chronic pancreatitis (CP), and to determine whether serine protease inhibitor Kazal 1type (SPINK1) N34S or alcohol are necessary co-factors in its etiology.
|
18680227 |
2008 |