|
Hereditary pancreatitis
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Despite 90% identity with PRSS1 and a strong propensity for autoactivation, mutations in PRSS2 are not found in hereditary pancreatitis suggesting that activation of this isoform is more tightly regulated.
|
27129265 |
2016 |
|
Hereditary pancreatitis
|
0.630 |
Biomarker
|
disease |
BEFREE |
We have recently reported that the triplication of a approximately 605 kilobase segment containing the PRSS1 (encoding cationic trypsinogen) and PRSS2 (encoding anionic trypsinogen) genes causes hereditary pancreatitis.
|
18063422 |
2008 |
|
Hereditary pancreatitis
|
0.630 |
GeneticVariation
|
disease |
ORPHANET |
Here we demonstrate a heterozygous hybrid PRSS2 (encoding anionic trypsinogen)/PRSS1 gene in a French white family with hereditary pancreatitis, by means of quantitative fluorescent multiplex PCR and RT-PCR analyses.
|
18461367 |
2008 |
|
Hereditary pancreatitis
|
0.630 |
GeneticVariation
|
disease |
BEFREE |
Here we demonstrate a heterozygous hybrid PRSS2 (encoding anionic trypsinogen)/PRSS1 gene in a French white family with hereditary pancreatitis, by means of quantitative fluorescent multiplex PCR and RT-PCR analyses.
|
18461367 |
2008 |
|
Hereditary pancreatitis
|
0.630 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
|
16699518 |
2006 |
|
Hereditary pancreatitis
|
0.630 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Here we analysed whether common variants in the CLDN2-MORC4 and the PRSS1-PRSS2 locus that increase recurrent AP and CP risk associate with AP.
|
29884332 |
2018 |
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
A recent genome-wide association study (GWAS) identified association with variants in X-linked CLDN2 and MORC4, and PRSS1-PRSS2 loci with chronic pancreatitis (CP) in North American patients of European ancestry.
|
26820620 |
2016 |
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
In this study, we evaluated the association of claudin2 and PRSS1-PRSS2 polymorphisms with idiopathic RAP and CP.
|
26110235 |
2015 |
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
A genome-wide association study reported an association of chronic pancreatitis (CP) with variants in PRSS1-PRSS2 (rs10273639; near the gene encoding cationic trypsinogen) and CLDN2-MORC4 loci (rs7057398 in RIPPLY1 and rs12688220 in MORC4).
|
25253127 |
2015 |
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
However mutations in cationic and anionic trypsinogen gene do not play an important role in causing CP in Asia Pacific region.
|
21323990 |
2011 |
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
It has been recently shown that a loss-of-function variant, c.571G>A (p.G191R), in the anionic trypsinogen (PRSS2) gene protects against chronic pancreatitis in European populations.
|
19052022 |
2009 |
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
LHGDN |
A loss of function polymorphism (G191R) of anionic trypsinogen (PRSS2) confers protection against chronic pancreatitis.
|
18362849 |
2008 |
|
Pancreatitis, Chronic
|
0.490 |
Biomarker
|
disease |
CTD_human |
Hereditary chronic pancreatitis.
|
18206817 |
2008 |
|
Pancreatitis, Chronic
|
0.490 |
Biomarker
|
disease |
CTD_human |
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
|
16699518 |
2006 |
|
Pancreatitis, Chronic
|
0.490 |
AlteredExpression
|
disease |
LHGDN |
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
|
16699518 |
2006 |
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, the G191R variant of PRSS2 mitigates intrapancreatic trypsin activity and thereby protects against chronic pancreatitis.
|
16699518 |
2006 |
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
LHGDN |
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
|
15776435 |
2005 |
|
Pancreatitis, Chronic
|
0.490 |
GeneticVariation
|
disease |
BEFREE |
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
|
15776435 |
2005 |
|
Pancreatitis, Chronic
|
0.490 |
Biomarker
|
disease |
HPO |
|
|
|
|
Autosomal Dominant Hereditary Pancreatitis
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Pancreatitis
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
|
23143602 |
2012 |
|
Pancreatitis
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
These individuals and 100 patients with pHPT without pancreatitis were analysed for CTRC (p.R254W and p.K247_R254del) and PRSS2 (p.G191R) mutations using melting curve analysis and DNA sequencing or PCR and gel electrophoresis (in case of p.K247_R254del CTRC).
|
20625975 |
2011 |
|
Pancreatitis
|
0.140 |
Biomarker
|
disease |
LHGDN |
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.
|
18461367 |
2008 |
|
Pancreatitis
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
In contrast, no pancreatitis-associated mutations have been found in the anionic trypsinogen gene (PRSS2), suggesting that this isoform might play a relatively unimportant role in pancreatitis.
|
14695529 |
2004 |