Polymorphisms at<i>PRSS1–PRSS2</i>and<i>CLDN2–MORC4</i>loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study

Derikx, Monique; Kovacs, Peter; Scholz, Markus; Masson, Emmanuelle; Chen, Jian‐Min; Ruffert, Claudia; Lichtner, Peter; Morsche, R.H.M. te; Cavestro, Giulia Martina; Férec, Claude; Drenth, Joost P.H.; Witt, Heiko; Rosendahl, Jonas

doi:10.1136/gutjnl-2014-307453

Cited by 107 publications

(110 citation statements)

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“…In contrast, risk variants of other genes typically confer smaller but significant risk and are often found in the transheterozygous state in affected carriers (25). More recently, a GWAS study identified common variants in the CLDN2 locus and in the promoter region of PRSS1 that appear to increase disease risk only by a small degree (10,43).…”

mentioning

confidence: 99%

Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis

Balázs

Hegyi

Sahin–Tóth

2016

American Journal of Physiology-Gastrointestinal and Liver Physi

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confidence: 99%

Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis

Balázs

Hegyi

Sahin–Tóth

2016

American Journal of Physiology-Gastrointestinal and Liver Physi

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“…Mutations in this gene have been associated with chronic pancreatitis particularly in those individuals who consume alcohol. It has recently been described to be involved in pancreatic acinar cells [40]. And finally, the gene CPA1 encodes a pancreatic digestive enzyme whose mutations have been found to be involved in early onset of chronic pancreatitis.…”

Section: Gene (S) Involved Clinical Featuresmentioning

confidence: 99%

Hereditary Pancreatic Cancer

Borazanci¹,

Haag²

2017

Challenges in Pancreatic Pathology

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Pancreatic cancer is estimated to surpass breast cancer to become the third leading cause of cancer-related death in the USA in 2016. The 5-year overall survival is 7%, and most individuals are diagnosed with advanced disease. Thus, there is a need to improve the early detection of pancreatic cancer in order to detect and improve survival in the same way that mammograms and colonoscopies have improved survival for individuals with breast and colorectal cancer. This chapter discusses the genetics of hereditary pancreatic cancer, the current available screening options, and the use of biomarkers for early detection of pancreatic cancer.

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“…Genomic DNA will be isolated and genetic analyses of the cationic trypsinogen (PRSS1) [16,17,18,19], chymotrypsin C (CTRC) [20,21], cystic fibrosis transmembrane conductance regulator (CFTR) [22], serine peptidase inhibitor Kazal type 1 (SPINK1) [23,24], carboxypeptidase A1 (CPA1) [25] and carboxyl-ester lipase (CEL) [26] will be performed. In order to detect the most common mutations concerning PRSS1 (p.A16V, p.N29I, p.R122C and p.R122H) exon-2 and exon-3, concerning CPA1 mutations (p.V251M, p.N256K, p.Y308H and p.R382W) exon-7, exon-8 and exon-10, concerning SPINK1 (p.N34S and c.194+2T>C) exon-3, concerning CTRC (p.G60G, p.V235I, p.R254W and p.K247_R254del) exon-3 and exon-7, concerning CFTR (p.R117H and p.F508del) exon-4 and exon-11 and concerning CEL all exons will be sequenced.…”

Section: Methodsmentioning

confidence: 99%

Analysis of Pediatric Pancreatitis (APPLE Trial): Pre-Study Protocol of a Multinational Prospective Clinical Trial

Párniczky¹,

Mosztbacher²,

Zsoldos³

et al. 2015

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Background: Single-centered studies show increased number of acute pancreatitis (AP) in children. Here, the Pediatric Section of the Hungarian Pancreatic Study Group introduces an international observational clinical trial (APPLE) to collect a critical mass of clinical data and biomedical research samples in a uniform prospective manner. Summary: The APPLE-R is for patients under 18 years of age with a history of pancreatitis. The study primarily provides information on possible genetic variants behind the disease and their impact on the prognosis. The APPLE-P is for patients under 18 years of age with a diagnosis of AP. Children with AP diagnosed based on the fulfillment of ‘2 out of 3' of the Atlanta criteria will be selected. This subtrial requests detailed information from the medical history, etiology, complains and symptoms, physical examinations, laboratory parameters, imaging, immediate therapy at admission and complications of the disease. The APPLE trial has been registered at the ISRCTN registry and has received the relevant ethical approval. The study is open for all pediatric centers throughout the world. Key Message: This is the first worldwide study tracking earlier (APPLE-R) and ongoing episodes (APPLE-P) of pancreatitis.

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Polymorphisms atPRSS1–PRSS2andCLDN2–MORC4loci associate with alcoholic and non-alcoholic chronic pancreatitis in a European replication study

Abstract: The single-nucleotide polymorphisms rs10273639 at the PRSS1-PRSS2 locus and rs7057398 and rs12688220 at the CLDN2-MORC4 locus are associated with CP and strongly associate with ACP, but only rs7057398 with NACP in female patients.

Cited by 107 publications

References 20 publications

Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis

Pathogenic cellular role of the p.L104P human cationic trypsinogen variant in chronic pancreatitis

Hereditary Pancreatic Cancer

Analysis of Pediatric Pancreatitis (APPLE Trial): Pre-Study Protocol of a Multinational Prospective Clinical Trial

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