Literature DB >> 26946345

No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations.

Wen-Bin Zou1, Arnaud Boulling2, Atsushi Masamune3, Prachand Issarapu4, Emmanuelle Masson5, Hao Wu6, Xiao-Tian Sun6, Liang-Hao Hu6, Dai-Zhan Zhou7, Lin He7, Yann Fichou8, Eriko Nakano3, Shin Hamada3, Yoichi Kakuta3, Kiyoshi Kume3, Hiroyuki Isayama9, Sumit Paliwal4, K Radha Mani4, Seema Bhaskar4, David N Cooper10, Claude Férec11, Tooru Shimosegawa3, Giriraj R Chandak12, Jian-Min Chen13, Zhao-Shen Li14, Zhuan Liao15.   

Abstract

A hybrid allele between the carboxyl ester lipase gene (CEL) and its pseudogene, CELP (called CEL-HYB), generated by nonallelic homologous recombination between CEL intron 10 and CELP intron 10', was found to increase susceptibility to chronic pancreatitis in a case-control study of patients of European ancestry. We attempted to replicate this finding in 3 independent cohorts from China, Japan, and India, but failed to detect the CEL-HYB allele in any of these populations. The CEL-HYB allele might therefore be an ethnic-specific risk factor for chronic pancreatitis. An alternative hybrid allele (CEL-HYB2) was identified in all 3 Asian populations (1.7% combined carrier frequency), but was not associated with chronic pancreatitis.
Copyright © 2016 AGA Institute. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Disease Susceptibility; Human Genetics; Nonsense-Mediated mRNA Decay; Pancreatic Acinar Cells

Mesh：

Substances：

Year:  2016        PMID： 26946345      PMCID： PMC5380763          DOI： 10.1053/j.gastro.2016.02.071

Source DB:  PubMed          Journal:  Gastroenterology        ISSN： 0016-5085            Impact factor:   22.682


  15 in total

1.  Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

Authors:  H Witt; W Luck; H C Hennies; M Classen; A Kage; U Lass; O Landt; M Becker
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

2.  Pancreatic function in carboxyl-ester lipase knockout mice.

Authors:  Mette Vesterhus; Helge Raeder; Amarnath J Kurpad; Dan Kawamori; Anders Molven; Rohit N Kulkarni; C Ronald Kahn; Pål Rasmus Njølstad
Journal:  Pancreatology       Date:  2010-08-19       Impact factor: 3.996

3.  Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.

Authors:  D C Whitcomb; M C Gorry; R A Preston; W Furey; M J Sossenheimer; C D Ulrich; S P Martin; L K Gates; S T Amann; P P Toskes; R Liddle; K McGrath; G Uomo; J C Post; G D Ehrlich
Journal:  Nat Genet       Date:  1996-10       Impact factor: 38.330

4.  Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

Authors:  Jacob A Tennessen; Abigail W Bigham; Timothy D O'Connor; Wenqing Fu; Eimear E Kenny; Simon Gravel; Sean McGee; Ron Do; Xiaoming Liu; Goo Jun; Hyun Min Kang; Daniel Jordan; Suzanne M Leal; Stacey Gabriel; Mark J Rieder; Goncalo Abecasis; David Altshuler; Deborah A Nickerson; Eric Boerwinkle; Shamil Sunyaev; Carlos D Bustamante; Michael J Bamshad; Joshua M Akey
Journal:  Science       Date:  2012-05-17       Impact factor: 47.728

5.  A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.

Authors:  Heiko Witt; Miklós Sahin-Tóth; Olfert Landt; Jian-Min Chen; Thilo Kähne; Joost Ph Drenth; Zoltán Kukor; Edit Szepessy; Walter Halangk; Stefan Dahm; Klaus Rohde; Hans-Ulrich Schulz; Cédric Le Maréchal; Nejat Akar; Rudolf W Ammann; Kaspar Truninger; Mario Bargetzi; Eesh Bhatia; Carlo Castellani; Giulia Martina Cavestro; Milos Cerny; Giovanni Destro-Bisol; Gabriella Spedini; Hans Eiberg; Jan B M J Jansen; Monika Koudova; Eva Rausova; Milan Macek; Núria Malats; Francisco X Real; Hans-Jürgen Menzel; Pedro Moral; Roberta Galavotti; Pier Franco Pignatti; Olga Rickards; Julius Spicak; Narcis Octavian Zarnescu; Wolfgang Böck; Thomas M Gress; Helmut Friess; Johann Ockenga; Hartmut Schmidt; Roland Pfützer; Matthias Löhr; Peter Simon; Frank Ulrich Weiss; Markus M Lerch; Niels Teich; Volker Keim; Thomas Berg; Bertram Wiedenmann; Werner Luck; David Alexander Groneberg; Michael Becker; Thomas Keil; Andreas Kage; Jana Bernardova; Markus Braun; Claudia Güldner; Juliane Halangk; Jonas Rosendahl; Ulrike Witt; Matthias Treiber; Renate Nickel; Claude Férec
Journal:  Nat Genet       Date:  2006-05-14       Impact factor: 38.330

6.  Regulation of nonsense-mediated mRNA decay: implications for physiology and disease.

Authors:  Rachid Karam; Jordan Wengrod; Lawrence B Gardner; Miles F Wilkinson
Journal:  Biochim Biophys Acta       Date:  2013-03-13

7.  Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.

Authors:  David C Whitcomb; Jessica LaRusch; Alyssa M Krasinskas; Lambertus Klei; Jill P Smith; Randall E Brand; John P Neoptolemos; Markus M Lerch; Matt Tector; Bimaljit S Sandhu; Nalini M Guda; Lidiya Orlichenko; Samer Alkaade; Stephen T Amann; Michelle A Anderson; John Baillie; Peter A Banks; Darwin Conwell; Gregory A Coté; Peter B Cotton; James DiSario; Lindsay A Farrer; Chris E Forsmark; Marianne Johnstone; Timothy B Gardner; Andres Gelrud; William Greenhalf; Jonathan L Haines; Douglas J Hartman; Robert A Hawes; Christopher Lawrence; Michele Lewis; Julia Mayerle; Richard Mayeux; Nadine M Melhem; Mary E Money; Thiruvengadam Muniraj; Georgios I Papachristou; Margaret A Pericak-Vance; Joseph Romagnuolo; Gerard D Schellenberg; Stuart Sherman; Peter Simon; Vijay P Singh; Adam Slivka; Donna Stolz; Robert Sutton; Frank Ulrich Weiss; C Mel Wilcox; Narcis Octavian Zarnescu; Stephen R Wisniewski; Michael R O'Connell; Michelle L Kienholz; Kathryn Roeder; M Michael Barmada; Dhiraj Yadav; Bernie Devlin
Journal:  Nat Genet       Date:  2012-11-11       Impact factor: 38.330

8.  Guidelines for investigating causality of sequence variants in human disease.

Authors:  D G MacArthur; T A Manolio; D P Dimmock; H L Rehm; J Shendure; G R Abecasis; D R Adams; R B Altman; S E Antonarakis; E A Ashley; J C Barrett; L G Biesecker; D F Conrad; G M Cooper; N J Cox; M J Daly; M B Gerstein; D B Goldstein; J N Hirschhorn; S M Leal; L A Pennacchio; J A Stamatoyannopoulos; S R Sunyaev; D Valle; B F Voight; W Winckler; C Gunter
Journal:  Nature       Date:  2014-04-24       Impact factor: 49.962

9.  Method for quantitative analysis of nonsense-mediated mRNA decay at the single cell level.

Authors:  Anton P Pereverzev; Nadya G Gurskaya; Galina V Ermakova; Elena I Kudryavtseva; Nadezhda M Markina; Alexey A Kotlobay; Sergey A Lukyanov; Andrey G Zaraisky; Konstantin A Lukyanov
Journal:  Sci Rep       Date:  2015-01-12       Impact factor: 4.379

10.  A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.

Authors:  Frank Ulrich Weiss; Denise Lasher; Jonas Rosendahl; Jian-Min Chen; Karianne Fjeld; Bente B Johansson; Holger Kirsten; Claudia Ruffert; Emmanuelle Masson; Solrun J Steine; Peter Bugert; Miriam Cnop; Robert Grützmann; Julia Mayerle; Joachim Mössner; Monika Ringdal; Hans-Ulrich Schulz; Matthias Sendler; Peter Simon; Paweł Sztromwasser; Janniche Torsvik; Markus Scholz; Erling Tjora; Claude Férec; Heiko Witt; Markus M Lerch; Pål R Njølstad; Stefan Johansson; Anders Molven
Journal:  Nat Genet       Date:  2015-03-16       Impact factor: 38.330
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  21 in total

1.  Prevalence and Risk Factors for Osteopathy in Chronic Pancreatitis.

Authors:  Xin-Ying Tang; Nan Ru; Qing Li; Yang-Yang Qian; Hui Sun; Jia-Hui Zhu; Lin He; Yuan-Chen Wang; Liang-Hao Hu; Zhao-Shen Li; Wen-Bin Zou; Zhuan Liao
Journal:  Dig Dis Sci       Date:  2021-01-12       Impact factor: 3.199

2.  Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding.

Authors:  Brett M Cassidy; Sammy Zino; Karianne Fjeld; Anders Molven; Mark E Lowe; Xunjun Xiao
Journal:  Hum Mutat       Date:  2020-09-09       Impact factor: 4.878

3.  No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort.

Authors:  Hao Wu; Dai-Zhan Zhou; Dorottya Berki; Andrea Geisz; Wen-Bin Zou; Xiao-Tian Sun; Liang-Hao Hu; Zhen-Hua Zhao; An-Jing Zhao; Lin He; David N Cooper; Claude Férec; Jian-Min Chen; Zhao-Shen Li; Miklós Sahin-Tóth; Zhuan Liao
Journal:  Hum Mutat       Date:  2017-05-30       Impact factor: 4.878

4.  Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer.

Authors:  Koji Tamura; Jun Yu; Tatsuo Hata; Masaya Suenaga; Koji Shindo; Toshiya Abe; Anne MacGregor-Das; Michael Borges; Christopher L Wolfgang; Matthew J Weiss; Jin He; Marcia Irene Canto; Gloria M Petersen; Steven Gallinger; Sapna Syngal; Randall E Brand; Anil Rustgi; Sara H Olson; Elena Stoffel; Michele L Cote; George Zogopoulos; James B Potash; Fernando S Goes; Richard W McCombie; Peter P Zandi; Mehdi Pirooznia; Melissa Kramer; Jennifer Parla; James R Eshleman; Nicholas J Roberts; Ralph H Hruban; Alison Patricia Klein; Michael Goggins
Journal:  Proc Natl Acad Sci U S A       Date:  2018-04-18       Impact factor: 11.205

5.  A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis.

Authors:  Xunjun Xiao; Gabrielle Jones; Wednesday A Sevilla; Donna B Stolz; Kelsey E Magee; Margaret Haughney; Amitava Mukherjee; Yan Wang; Mark E Lowe
Journal:  J Biol Chem       Date:  2016-09-20       Impact factor: 5.157

Review 6.  Genetics, Cell Biology, and Pathophysiology of Pancreatitis.

Authors:  Julia Mayerle; Matthias Sendler; Eszter Hegyi; Georg Beyer; Markus M Lerch; Miklós Sahin-Tóth
Journal:  Gastroenterology       Date:  2019-01-18       Impact factor: 22.682

Review 7.  Chronic Pancreatitis: Managing a Difficult Disease.

Authors:  Phil A Hart; Darwin L Conwell
Journal:  Am J Gastroenterol       Date:  2020-01       Impact factor: 12.045

8.  The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice.

Authors:  Xiao-Tong Mao; Wen-Bin Zou; Yu Cao; Yuan-Chen Wang; Shun-Jiang Deng; David N Cooper; Claude Férec; Zhao-Shen Li; Jian-Min Chen; Zhuan Liao
Journal:  Cell Mol Gastroenterol Hepatol       Date:  2022-04-07

Review 9.  Genetic risk in chronic pancreatitis: the misfolding-dependent pathway.

Authors:  Miklós Sahin-Tóth
Journal:  Curr Opin Gastroenterol       Date:  2017-09       Impact factor: 3.287

10.  Defining the endoscopic ultrasound features of chronic pancreatitis in Asians: a multicenter validation study.

Authors:  Calvin Jianyi Koh; Sundeep Lakhtakia; Mitsuhiro Kida; Cosmas Rinaldi A Lesmana; Tiing Leong Ang; Charles Kieng Fong Vu; Than Than Aye; Sun Hwa Park; Majid A Almadi; Charing Ching-Ning Chong; Raymond Shing Yan Tang; Xi Wu; Ida Hilmi; Vinay Dhir; Nonthalee Pausawasdi; Jahangeer Basha; Zhen-Dong Jin; Ai Ming Yang; Anthony Yuen Bun Teoh; Dong-Wan Seo; Hsiu-Po Wang; Khek Yu Ho
Journal:  Endoscopy       Date:  2020-08-06       Impact factor: 9.776
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