PRSS2, serine protease 2, 5645

N. diseases: 66; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238339
Disease: Hereditary pancreatitis
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
CUI: C0238339
Disease: Hereditary pancreatitis
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
CUI: C0238339
Disease: Hereditary pancreatitis
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
CUI: C0149521
Disease: Pancreatitis, Chronic
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
CUI: C0149521
Disease: Pancreatitis, Chronic
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
CUI: C0149521
Disease: Pancreatitis, Chronic
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
CUI: C0149521
Disease: Pancreatitis, Chronic
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
CUI: C0149521
Disease: Pancreatitis, Chronic
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
CUI: C0149521
Disease: Pancreatitis, Chronic
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
CUI: C0149521
Disease: Pancreatitis, Chronic
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
CUI: C0149521
Disease: Pancreatitis, Chronic
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
CUI: C0030305
Disease: Pancreatitis
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
CUI: C0030305
Disease: Pancreatitis
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
CUI: C0030305
Disease: Pancreatitis
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
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.120 Biomarker phenotype BEFREE It is important to know the diagnostic accuracy of serum amylase, serum lipase, urinary trypsinogen-2, and urinary amylase for the diagnosis of acute pancreatitis, so that an informed decision can be made as to whether the person with abdominal pain has acute pancreatitis. 28431198 2017
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.120 Biomarker phenotype BEFREE The trypsinogen-2 dipstick test was positive in 57 of 78 patients with acute pancreatitis (sensitivity, 73.1%) and in 6 of 16 patients with abdominal pain but without any evidence of acute pancreatitis (specificity, 62.5%). 30643362 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.070 GeneticVariation disease BEFREE The results of pooled analyses showed that CLDN2 rs7057398, MORC4 rs12688220 and PRSS1-PRSS2 rs10273639 polymorphisms were all significantly associated with susceptibility to acute pancreatitis in Caucasians. 31163246 2020
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.070 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
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.070 AlteredExpression disease BEFREE Compared with the AP group, the AP+PD98059+siRNA group had decreased expression of DUSP1 in tissues, whereas the AP+PD98059 group had decreased serum expression levels of TNF‑α, IL‑1β, IL‑6, HMGB1, S100A12 and amylase, lipase and urinary trypsinogen‑2. 29393354 2018
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.070 GeneticVariation disease BEFREE We confirmed a robust association of polymorphism rs10273639 at PRSS1-PRSS2 with AP in the Russian population. 27846138 2017
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.070 Biomarker disease BEFREE The trypsinogen-2 dipstick test was positive in 57 of 78 patients with acute pancreatitis (sensitivity, 73.1%) and in 6 of 16 patients with abdominal pain but without any evidence of acute pancreatitis (specificity, 62.5%). 30643362 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.070 Biomarker disease BEFREE In a prospective cohort, urinary trypsinogen-2 level > 500 μg/L independently predicted local complications of AP. 31039289 2019
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.070 Biomarker disease BEFREE We included all studies that evaluated the diagnostic test accuracy of serum amylase, serum lipase, urinary trypsinogen-2, and urinary amylase for the diagnosis of acute pancreatitis. 28431198 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Tumor-associated trypsin-2 and matrix metalloprotease-9 (MMP-9) are associated with cancer, particularly with invasive squamous cell carcinomas. 18062964 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE We hypothesized that trypsin-2, a tumor-associated serine proteinase, induces tongue carcinoma invasion by activating pro-membrane type-1 matrix metalloproteinase (MT1-MMP) and disturbing the TJs. 22909050 2012