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 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
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 LHGDN 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 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 LHGDN A loss of function polymorphism (G191R) of anionic trypsinogen (PRSS2) confers protection against chronic pancreatitis. 18362849 2008
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: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis. 28754779 2018
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
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 GeneticVariation disease BEFREE We confirmed a robust association of polymorphism rs10273639 at PRSS1-PRSS2 with AP in the Russian population. 27846138 2017
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.010 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: C0262417
Disease: Acute on chronic pancreatitis
Acute on chronic pancreatitis 		0.010 GeneticVariation disease BEFREE Association of claudin2 and PRSS1-PRSS2 polymorphisms with idiopathic recurrent acute and chronic pancreatitis: A case-control study from India. 26110235 2015
CUI: C0810032
Disease: Pancreatic disorders (not diabetes)
Pancreatic disorders (not diabetes) 		0.010 GeneticVariation group BEFREE A loss-of-function p.G191R variant in the anionic trypsinogen (PRSS2) gene in Japanese patients with pancreatic disorders. 19052022 2009
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.010 GeneticVariation disease BEFREE We found a weak association between the minor allele of the PRSS1-PRSS2-rs10273639 and an increased risk of developing PDAC (OR<sub>homozygous</sub>  = 1.19, 95% CI 1.02-1.38, p = 0.023). 28913878 2018