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https://www.readbyqxmd.com/read/29118810/the-differential-role-of-human-cationic-trypsinogen-prss1-p-r122h-mutation-in-hereditary-and-nonhereditary-chronic-pancreatitis-a-systematic-review-and-meta-analysis
#1
REVIEW
Cheng Hu, Li Wen, Lihui Deng, Chenlong Zhang, Aurelia Lugea, Hsin-Yuan Su, Richard T Waldron, Stephen J Pandol, Qing Xia
Background: Environmental factors and genetic mutations have been increasingly recognized as risk factors for chronic pancreatitis (CP). The PRSS1 p.R122H mutation was the first discovered to affect hereditary CP, with 80% penetrance. We performed here a systematic review and meta-analysis to evaluate the associations of PRSS1 p.R122H mutation with CP of diverse etiology. Methods: The PubMed, EMBASE, and MEDLINE database were reviewed. The pooled odds ratio (OR) with 95% confidence intervals was used to evaluate the association of p...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28913878/do-pancreatic-cancer-and-chronic-pancreatitis-share-the-same-genetic-risk-factors-a-pancreatic-disease-research-pandora-consortium-investigation
#2
Daniele Campa, Manuela Pastore, Gabriele Capurso, Thilo Hackert, Milena Di Leo, Jakob R Izbicki, Kay-Tee Khaw, Domenica Gioffreda, Juozas Kupcinskas, Claudio Pasquali, Peter Macinga, Rudolf Kaaks, Serena Stigliano, Petra H Peeters, Timothy J Key, Renata Talar-Wojnarowska, Pavel Vodicka, Roberto Valente, Yogesh K Vashist, Roberto Salvia, Ioannis Papaconstantinou, Yasuhiro Shimizu, Chiara Valsuani, Carlo Federico Zambon, Maria Gazouli, Irena Valantiene, Willem Niesen, Beatrice Mohelnikova-Duchonova, Kazuo Hara, Pavel Soucek, Ewa Malecka-Panas, H Bas Bueno-De-Mesquita, Theron Johnson, Herman Brenner, Francesca Tavano, Paola Fogar, Hidemi Ito, Cosimo Sperti, Katja Butterbach, Anna Latiano, Angelo Andriulli, Giulia Martina Cavestro, Olivier R C Busch, Frederike Dijk, William Greenhalf, Keitaro Matsuo, Carlo Lombardo, Oliver Strobel, Anna-Katharina König, Katarina Cuk, Hendrik Strothmann, Verena Katzke, Maurizio Cantore, Andrea Mambrini, Martin Oliverius, Raffaele Pezzilli, Stefano Landi, Federico Canzian
Pancreatic ductal adenocarcinoma (PDAC) is a very aggressive tumor with a five-year survival of less than 6%. Chronic pancreatitis (CP), an inflammatory process in of the pancreas, is a strong risk factor for PDAC. Several genetic polymorphisms have been discovered as susceptibility loci for both CP and PDAC. Since CP and PDAC share a consistent number of epidemiologic risk factors, the aim of this study was to investigate whether specific CP risk loci also contribute to PDAC susceptibility. We selected five common SNPs (rs11988997, rs379742, rs10273639, rs2995271 and rs12688220) that were identified as susceptibility markers for CP and analyzed them in 2,914 PDAC cases, 356 CP cases and 5,596 controls retrospectively collected in the context of the international PANDoRA consortium...
September 15, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28861620/nationwide-survey-of-hereditary-pancreatitis-in-japan
#3
Atsushi Masamune, Kazuhiro Kikuta, Shin Hamada, Eriko Nakano, Kiyoshi Kume, Ayano Inui, Toshiaki Shimizu, Yoshifumi Takeyama, Masaki Nio, Tooru Shimosegawa
BACKGROUND: Hereditary pancreatitis (HP) is a rare cause of chronic pancreatitis. We here report a nationwide survey to clarify the epidemiological, genetic, and clinical features of HP in Japan. METHODS: Target subjects were patients with HP and their family members who had visited selected hospitals between 2005 and 2014. This study consisted of two-stage surveys; patients with HP were identified by the first questionnaire and their clinical features were assessed by the second questionnaire...
August 31, 2017: Journal of Gastroenterology
https://www.readbyqxmd.com/read/28754779/genome-wide-association-study-identifies-inversion-in-the-ctrb1-ctrb2-locus-to-modify-risk-for-alcoholic-and-non-alcoholic-chronic-pancreatitis
#4
Jonas Rosendahl, Holger Kirsten, Eszter Hegyi, Peter Kovacs, Frank Ulrich Weiss, Helmut Laumen, Peter Lichtner, Claudia Ruffert, Jian-Min Chen, Emmanuelle Masson, Sebastian Beer, Constantin Zimmer, Katharina Seltsam, Hana Algül, Florence Bühler, Marco J Bruno, Peter Bugert, Ralph Burkhardt, Giulia Martina Cavestro, Halina Cichoz-Lach, Antoni Farré, Josef Frank, Giovanni Gambaro, Sebastian Gimpfl, Harald Grallert, Heidi Griesmann, Robert Grützmann, Claus Hellerbrand, Péter Hegyi, Marcus Hollenbach, Sevastitia Iordache, Grazyna Jurkowska, Volker Keim, Falk Kiefer, Sebastian Krug, Olfert Landt, Milena Di Leo, Markus M Lerch, Philippe Lévy, Markus Löffler, Matthias Löhr, Maren Ludwig, Milan Macek, Nuria Malats, Ewa Malecka-Panas, Giovanni Malerba, Karl Mann, Julia Mayerle, Sonja Mohr, Rene H M Te Morsche, Marie Motyka, Sebastian Mueller, Thomas Müller, Markus M Nöthen, Sergio Pedrazzoli, Stephen P Pereira, Annette Peters, Roland Pfützer, Francisco X Real, Vinciane Rebours, Monika Ridinger, Marcella Rietschel, Eva Rösmann, Adrian Saftoiu, Alexander Schneider, Hans-Ulrich Schulz, Nicole Soranzo, Michael Soyka, Peter Simon, James Skipworth, Felix Stickel, Konstantin Strauch, Michael Stumvoll, Pier Alberto Testoni, Anke Tönjes, Lena Werner, Jens Werner, Norbert Wodarz, Martin Ziegler, Atsushi Masamune, Joachim Mössner, Claude Férec, Patrick Michl, Joost P H Drenth, Heiko Witt, Markus Scholz, Miklós Sahin-Tóth
OBJECTIVE: Alcohol-related pancreatitis is associated with a disproportionately large number of hospitalisations among GI disorders. Despite its clinical importance, genetic susceptibility to alcoholic chronic pancreatitis (CP) is poorly characterised. To identify risk genes for alcoholic CP and to evaluate their relevance in non-alcoholic CP, we performed a genome-wide association study and functional characterisation of a new pancreatitis locus. DESIGN: 1959 European alcoholic CP patients and population-based controls from the KORA, LIFE and INCIPE studies (n=4708) as well as chronic alcoholics from the GESGA consortium (n=1332) were screened with Illumina technology...
July 28, 2017: Gut
https://www.readbyqxmd.com/read/28731996/-pancreatitis-genes-and-islet-cells-auto-transplant-updates-and-new-horizons
#5
Edgardo D Rivera Rivera
Pancreatitis is an inflammation of the pancreas that can progress from an acute presentation to an acute recurring presentation and eventually to chronic pancreatitis, which is characterized by irreversible morphological changes and scarring of the pancreas. The entity known as hereditary pancreatitis has been recognized in the literature for years and certainly the discovery of the PRSS1 gene in 1996 marked the beginning of a new era of genetic discoveries associated with the disease. Since then, multiple genes have been described as the causing agents of pancreatitis or disease modifiers, some of the most important ones being the PRSS1, SPINK1, CFTR, CASR, CTRC, CLDN2, and CPA1...
April 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/28650851/genetic-risk-in-chronic-pancreatitis-the-misfolding-dependent-pathway
#6
Miklós Sahin-Tóth
PURPOSE OF REVIEW: Genetic risk in chronic pancreatitis is partly due to mutations that cause misfolding of digestive enzymes and elicit endoplasmic reticulum stress. This review examines recent developments in this concept. RECENT FINDINGS: The best characterized misfolding variants in the highly expressed digestive proteases cationic trypsinogen (PRSS1) and carboxypeptidase A1 (CPA1) are strong, causative risk factors for chronic pancreatitis and may be associated with autosomal dominant hereditary pancreatitis...
September 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28536777/genetic-risk-in-chronic-pancreatitis-the-trypsin-dependent-pathway
#7
REVIEW
Eszter Hegyi, Miklós Sahin-Tóth
Genetic investigations have provided unique insight into the mechanism of chronic pancreatitis in humans and firmly established that uncontrolled trypsin activity is a central pathogenic factor. Mutations in the PRSS1, SPINK1, and CTRC genes promote increased activation of trypsinogen to trypsin by stimulation of autoactivation or by impairing protective trypsinogen degradation and/or trypsin inhibition. Here we review key genetic and biochemical features of the trypsin-dependent pathological pathway in chronic pancreatitis...
July 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28502372/early-onset-acute-recurrent-and-chronic-pancreatitis-is-associated-with-prss1-or-ctrc-gene-mutations
#8
Matthew J Giefer, Mark E Lowe, Steven L Werlin, Bridget Zimmerman, Michael Wilschanski, David Troendle, Sarah Jane Schwarzenberg, John F Pohl, Joseph Palermo, Chee Y Ooi, Veronique D Morinville, Tom K Lin, Sohail Z Husain, Ryan Himes, Melvin B Heyman, Tanja Gonska, Cheryl E Gariepy, Steven D Freedman, Douglas S Fishman, Melena D Bellin, Bradley Barth, Maisam Abu-El-Haija, Aliye Uc
OBJECTIVES: To assess whether the age of onset was associated with unique features or disease course in pediatric acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). STUDY DESIGN: Demographic and clinical information on children with ARP or CP was collected at INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE) centers. The Cochran-Armitage trend test and Jonckheere-Terpstra test were used to examine for differences between pediatric age groups (<6, 6-11, and ≥12 years)...
July 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28454201/-identical-variants-different-disease-course-genetics-of-chronic%C3%A2-pancreatitis
#9
Sebastian Beer, Joachim Mössner
Multiple genetic associations with chronic pancreatitis have been identified. In cases with hereditary pancreatitis family history is reported and mostly distinct causative variants in cationic trypsinogen (PRSS1) are identified. Furthermore, variants in other genes of proteases and anti-proteases of the digestive enzyme cascade (SPINK1, CTRC, CPA1), are also associated with chronic pancreatitis. Interestingly, penetrance of associated variants as well as the disease course are variable. As such environmental factors like smoking may play an important role...
May 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28440306/an-evaluation-of-factors-associated-with-pathogenic-prss1-spink1-ctfr-and-or-ctrc-genetic-variants-in-patients-with-idiopathic-pancreatitis
#10
Niloofar Y Jalaly, Robert A Moran, Farshid Fargahi, Mouen A Khashab, Ayesha Kamal, Anne Marie Lennon, Christi Walsh, Martin A Makary, David C Whitcomb, Dhiraj Yadav, Liudmila Cebotaru, Vikesh K Singh
OBJECTIVES: We evaluated factors associated with pathogenic genetic variants in patients with idiopathic pancreatitis. METHODS: Genetic testing (PRSS1, CFTR, SPINK1, and CTRC) was performed in all eligible patients with idiopathic pancreatitis between 2010 to 2015. Patients were classified into the following groups based on a review of medical records: (1) acute recurrent idiopathic pancreatitis (ARIP) with or without underlying chronic pancreatitis; (2) idiopathic chronic pancreatitis (ICP) without a history of ARP; (3) an unexplained first episode of acute pancreatitis (AP)<35 years of age; and (4) family history of pancreatitis...
August 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/28337383/pancreatic-cancer-screening-in-different-risk-individuals-with-family-history-of-pancreatic-cancer-a-prospective-cohort-study-in-taiwan
#11
Ming-Chu Chang, Chih-Horng Wu, Shih-Hung Yang, Po-Chin Liang, Bang-Bin Chen, I-Shiow Jan, Yu-Ting Chang, Yung-Ming Jeng
Pancreatic cancer (PC) is usually diagnosed at advanced stage. Our aim was to investigate the risk of malignant and premalignant pancreatic lesions in individuals with family history of PC. Individuals at risk of PC were enrolled prospectively in a screening program in Taiwan. All risk individuals received genetic testing of cationic trypsinogen (PRSS1) gene and the serine protease inhibitor Kazal type 1 (SPINK1) gene. They were stratified into three risk groups (high, moderate, and low) based on the family history and genetic testing...
2017: American Journal of Cancer Research
https://www.readbyqxmd.com/read/28320629/is-acute-recurrent-pancreatitis-in-children-a-precursor-of-chronic-pancreatitis-a-long-term-follow-up-study-of-93-cases
#12
Ujjal Poddar, Surender K Yachha, Vibhor Borkar, Anshu Srivastava
BACKGROUND/AIMS: In view of paucity of literature we analyzed our experience of acute recurrent pancreatitis (ARP) to study clinical profile and long-term outcome. METHODS: Over 13 years, 93 consecutive children (≤18 years) diagnosed to have ARP were included in this study. Magnetic resonance cholangiopancreatography was done at baseline and on follow-up. Common mutations for serine-protease-inhibitor (SPINK1 N34S), protease inhibitor (PRSS1 R122S) and cystic fibrosis transmembrane conductance regulator (CFTR deltaF508, 5T) were studied in 22 idiopathic cases...
July 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28276824/clinical-profile-and-treatment-outcome-of-chronic-pancreatitis-in-children-a-long-term-follow-up-study-of-156-cases
#13
Ujjal Poddar, Surender Kumar Yachha, Vibhor Borkar, Anshu Srivastava, Vivek A Saraswat
AIM: There is a paucity of literature in pediatric chronic pancreatitis (CP) and most information is derived from adult literature. We, therefore, analyzed our experience of CP to look for clinical profile and long-term outcome. METHODS: From January 2003 to December 2015, 156 consecutive children (≤18 years) diagnosed as CP were included. Their clinical profile, management, and follow-up data were retrieved. Genetic markers (PRSS1, SPINK1, and CFTR) were studied in 40 idiopathic cases...
June 2017: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/28151472/calcb-splice-region-pathogenic-variants-leading-to-plasma-cell-neurotropic-enrichment-in-type-1-autoimmune-pancreatitis
#14
Qi-Cai Liu, Falin Chen, Chao-Yang Wu, Feng Gao, Ze-Hao Zhuang, Jin-Tong Chen, Bin Cai, Tianming Zhang, Ling Guo, Li-Qing Lin, Cheng-Fei Zhao, Xin-Hua Lin
Recently, we have demonstrated that PRSS1 mutations cause ectopic trypsinogen activation and thereby result in type 1 autoimmune pancreatitis (AIP). However, the molecules involved in inducing obliterative vasculitis and perineural inflammation in the pancreas are not well-described. The present study applied whole-exome sequencing (WES) to determine the underlying etiology and revealed novel missense splice region variants, CALCB c.88T>C (p.Ser30Pro) and IR [1]-mutants, in 2 of the 3 families and 2 of 26 unrelated patients with type 1 AIP...
February 2, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28096305/epithelial-expression-and-function-of-trypsin-3-in-irritable-bowel-syndrome
#15
Claire Rolland-Fourcade, Alexandre Denadai-Souza, Carla Cirillo, Cintya Lopez, Josue Obed Jaramillo, Cleo Desormeaux, Nicolas Cenac, Jean-Paul Motta, Muriel Larauche, Yvette Taché, Pieter Vanden Berghe, Michel Neunlist, Emmanuel Coron, Sylvain Kirzin, Guillaume Portier, Delphine Bonnet, Laurent Alric, Stephen Vanner, Celine Deraison, Nathalie Vergnolle
OBJECTIVES: Proteases are key mediators of pain and altered enteric neuronal signalling, although the types and sources of these important intestinal mediators are unknown. We hypothesised that intestinal epithelium is a major source of trypsin-like activity in patients with IBS and this activity signals to primary afferent and enteric nerves and induces visceral hypersensitivity. DESIGN: Trypsin-like activity was determined in tissues from patients with IBS and in supernatants of Caco-2 cells stimulated or not...
October 2017: Gut
https://www.readbyqxmd.com/read/28069802/genomic-profiling-of-a-large-set-of-diverse-pediatric-cancers-identifies-known-and-novel-mutations-across-tumor-spectra
#16
Juliann Chmielecki, Mark Bailey, Jie He, Julia Elvin, Jo-Anne Vergilio, Shakti Ramkissoon, James Suh, Garrett M Frampton, James X Sun, Samantha Morley, Daniel Spritz, Siraj Ali, Laurie Gay, Rachel L Erlich, Jeffrey S Ross, Joana Buxhaku, Hilary Davies, Vinny Faso, Alexis Germain, Blair Glanville, Vincent A Miller, Philip J Stephens, Katherine A Janeway, John M Maris, Soheil Meshinchi, Trevor J Pugh, Jack F Shern, Doron Lipson
Pediatric cancers are generally characterized by low mutational burden and few recurrently mutated genes. Recent studies suggest that genomic alterations may help guide treatment decisions and clinical trial selection. Here, we describe genomic profiles from 1,215 pediatric tumors representing sarcomas, extracranial embryonal tumors, brain tumors, hematologic malignancies, carcinomas, and gonadal tumors. Comparable published datasets identified similar frequencies of clinically relevant alterations, validating this dataset as biologically relevant...
January 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/27941194/-genetic-mutations-as-a-cause-of-acute-recurrent-pancreatitis-in-children-case-report-and-literature-review
#17
REVIEW
Tatiana Jamer, Barbara Iwańczak
Acute recurrent pancreatitis is not common in children. The epidemiology, etiology and clinical presentation of pediatric acute recurrent pancreatitis are not well understood. The etiology is diverse and multifactorial, with many cases being idiopathic. The most common etiology of acute recurrent pancreatitis in children are genetic factors, biliary duct disorders, anatomic anomalies of the pancreatobiliary system and metabolic diseases. Mutations are most commonly found in the cationic trypsynogen gene (PRSS1), the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cystic fibrosis transmembrane conductance regulator gene (CFTR)...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27899187/genetic-predisposition-to-gastric-cancer
#18
REVIEW
Iva Petrovchich, James M Ford
Gastric cancer ranks as the third leading cause of cancer mortality worldwide and confers a 5-year survival of 20%. While most gastric cancers are sporadic, ~1%-3% can be attributed to inherited cancer predisposition syndromes. Germline E-cadherin/CDH1 mutations have been identified in families with an autosomal dominant inherited predisposition to diffuse gastric cancer. The cumulative risk of gastric cancer for CDH1 mutation carriers by age 80 years is reportedly 70% for men and 56% for women. Female mutation carriers also have an estimated 42% risk for developing lobular breast cancer by age 80 years...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27846138/alcohol-consumption-and-cigarette-smoking-are-important-modifiers-of-the-association-between-acute-pancreatitis-and-the-prss1-prss2-locus-in-men
#19
Alexey V Polonikov, Tatyana A Samgina, Petr M Nazarenko, Olga Y Bushueva, Vladimir P Ivanov
OBJECTIVES: The present study was designed to investigate whether the susceptibility to acute pancreatitis (AP) attributable to polymorphism rs10273639 at the PRSS1-PRSS2 locus is dependent on alcohol consumption and cigarette smoking. METHODS: A total of 603 unrelated Russian individuals including 304 patients with physician-diagnosed AP and 299 sex- and age-matched healthy controls have been recruited for the study. A polymorphism rs10273639 (-408C>T) of PRSS1-PRSS2 was genotyped by TaqMan-based assay...
February 2017: Pancreas
https://www.readbyqxmd.com/read/27748719/chronic-pancreatitis-in-the-21st-century-research-challenges-and-opportunities-summary-of-a-national-institute-of-diabetes-and-digestive-and-kidney-diseases-workshop
#20
Aliye Uc, Dana K Andersen, Melena D Bellin, Jason I Bruce, Asbjørn M Drewes, John F Engelhardt, Christopher E Forsmark, Markus M Lerch, Mark E Lowe, Brent A Neuschwander-Tetri, Stephen J OʼKeefe, Tonya M Palermo, Pankaj Pasricha, Ashok K Saluja, Vikesh K Singh, Eva M Szigethy, David C Whitcomb, Dhiraj Yadav, Darwin L Conwell
A workshop was sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases to focus on research gaps and opportunities in chronic pancreatitis (CP) and its sequelae. This conference marked the 20th year anniversary of the discovery of the cationic trypsinogen (PRSS1) gene mutation for hereditary pancreatitis. The event was held on July 27, 2016, and structured into 4 sessions: (1) pathophysiology, (2) exocrine complications, (3) endocrine complications, and (4) pain. The current state of knowledge was reviewed; many knowledge gaps and research needs were identified that require further investigation...
November 2016: Pancreas
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