|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
BEFREE |
N34S SPINK1 represents the major genetic risk factor in TCP.
|
19077465 |
2009 |
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
BEFREE |
The minor allele frequency for rs7903146 was different between TCP and FCPD patients carrying the N34S SPINK1 variant but did not reach statistical significance (OR = 1.59, 95% CI = 0.93-2.70, P = 0.09), while, TCF7L2variant showed a statistically significant association between TCP and FCPD patients carrying the 26V allele (OR = 1.69, 95% CI = 1.11-2.56, P = 0.013).
|
18706099 |
2008 |
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
BEFREE |
As PRSS1 mutations are absent in TCP and the N34S SPINK1 mutation is proposed to play a modifier role, these variants may be critical as a trigger for cationic trypsinogen activation.
|
16492714 |
2006 |
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
BEFREE |
TCP is highly associated with the SPINK1 N34S mutation.
|
12360463 |
2002 |
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
UNIPROT |
Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.
|
12011155 |
2002 |
|
TROPICAL CALCIFIC PANCREATITIS
|
|
0.750 |
GeneticVariation
|
UNIPROT |
SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.
|
12187509 |
2002 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pancreatic Cancer Cell Lines Heterozygous for the SPINK1 p.N34S Haplotype Exhibit Diminished Expression of the Variant Allele.
|
28609377 |
2017 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype.
|
28556356 |
2017 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetics of pancreatitis: the 2014 update.
|
24522117 |
2014 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis.
|
25206283 |
2014 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
|
22427236 |
2013 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.
|
23951356 |
2013 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetics and pathogenesis of chronic pancreatitis: the 2012 update.
|
22749696 |
2012 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Chronic pancreatitis: genetics and pathogenesis.
|
19453252 |
2009 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Role of genetic disorders in acute recurrent pancreatitis.
|
18286680 |
2008 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Hereditary chronic pancreatitis.
|
17204147 |
2007 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.
|
17525091 |
2007 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Estimation of the prevalence and incidence of chronic pancreatitis and its complications.
|
16885867 |
2006 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational analysis of the pancreatic secretory trypsin inhibitor gene in familial and juvenile pancreatitis in Japan.
|
12743777 |
2003 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent.
|
12187509 |
2002 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.
|
12011155 |
2002 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.
|
10691414 |
2000 |
|
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
|
10835640 |
2000 |
|
Pancreatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our findings suggest protein structural changes in the N34S variant as an impairment of SPINK1 and environmental pH shift as a trigger that could play a role in disease progression of pancreatitis.
|
31525466 |
2020 |
|
Pancreatitis
|
|
0.100 |
GeneticVariation
|
BEFREE |
SPINK1 related pancreatitis is associated with earlier onset and pancreatic insufficiencies. p.N34S SPINK1 may well be associated with cancer.
|
31628023 |
2019 |