|
rs148954387
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1553134935
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The association between SPINK1 p.N34S gene variation and CP is confirmed.
|
28546062 |
2017 |
|
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 |
|
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 |
|
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 |
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 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 |
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 |
Two common haplotypes, c.101A>G (p.N34S) and c.-215G>A, and four intronic alterations of the serine protease inhibitor Kazal type 1 (SPINK1) gene have been found to increase the risk for CP in the Asia Pacific region.
|
21323990 |
2011 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Two common haplotypes, c.101A>G (p.N34S) and c.-215G>A, and four intronic alterations of the serine protease inhibitor Kazal type 1 (SPINK1) gene have been found to increase the risk for CP in the Asia Pacific region.
|
21323990 |
2011 |
|
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 |
|
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 |
We did not find a statistically significant association of ARP or CP with the N34S SPINK-1 gene mutation.
|
19844201 |
2010 |
|
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 is a weak risk factor for alcoholic chronic pancreatitis.
|
19565042 |
2009 |
|
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 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The frequencies of N34S and IVS3 + 2T > C in the SPINK1 gene were significantly higher in patients with non-alcoholic CP (12.9% and 8.6%, respectively) than in normal subjects (0.37% and 0%).
|
18336671 |
2008 |
|
rs17107315
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The small effect of SPINK1 N34S in alcoholic subjects suggests that CP is driven through a different pathway that is largely trypsin-independent.
|
18414673 |
2008 |
|
rs1223231582
|
|
|
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 |
The two individuals with the N34S mutation did not have any signs of chronic pancreatitis.
|
17613931 |
2007 |
|
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 |
Previous studies have shown an association between chronic pancreatitis (CP) and mutations, especially the N34S mutation, in the serine protease inhibitor Kazal type 1 (SPINK1) gene.
|
17446841 |
2007 |
|
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 |
|
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 |