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Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis: a possible new susceptibility gene

OBJECTIVE: Non-alcoholic chronic pancreatitis (NACP) frequently develops in the setting of genetic susceptibility associated with alterations in genes that are highly expressed in the pancreas. However, the genetic basis of NACP remains unresolved in a significant number of patients warranting a sea...

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Main Authors: Rygiel, Agnieszka (Author) , Unger, Lara Sophie (Author) , Sörgel, Franziska Lena (Author) , Masson, Emmanuelle (Author) , Matsumoto, Ryotaro (Author) , Ewers, Maren (Author) , Chen, Jian-Min (Author) , Bugert, Peter (Author) , Buscail, Louis (Author) , Gambin, Tomasz (Author) , Oracz, Grzegorz (Author) , Winiewska-Szajewska, Maria (Author) , Mianowska, Agnieszka (Author) , Poznanski, Jarosław (Author) , Kosińska, Joanna (Author) , Stawinski, Piotr (Author) , Płoski, Rafał (Author) , Koziel, Dorota (Author) , Gluszek, Stanisław (Author) , Laumen, Helmut (Author) , Lindgren, Fredrik (Author) , Löhr, J.-Matthias (Author) , Orekhova, Anna (Author) , Rebours, Vinciane (Author) , Rosendahl, Jonas (Author) , Párniczky, Andrea (Author) , Hegyi, Péter (Author) , Sasaki, Akira (Author) , Kataoka, Fumiya (Author) , Tanaka, Yu (Author) , Hamada, Shin (Author) , Sahin-Tóth, Miklós (Author) , Hegyi, Eszter (Author) , Férec, Claude (Author) , Masamune, Atsushi (Author) , Witt, Heiko (Author)
Format: Article (Journal)
Language:English
Published: 1 May 2022
In: Pancreatology
Year: 2022, Volume: 22, Issue: 5, Pages: 564-571
ISSN:1424-3911
DOI:10.1016/j.pan.2022.04.015
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.pan.2022.04.015
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Author Notes:Agnieszka Magdalena Rygiel, Lara Sophie Unger, Franziska Lena Sörgel, Emmanuelle Masson, Ryotaro Matsumoto, Maren Ewers, Jian-Min Chen, Peter Bugert, Louis Buscail, Tomasz Gambin, Grzegorz Oracz, Maria Winiewska-Szajewska, Agnieszka Mianowska, Jarosław Poznanski, Joanna Kosińska, Piotr Stawinski, Rafał Płoski, Dorota Koziel, Stanisław Gluszek, Helmut Laumen, Fredrik Lindgren, J. Matthias Löhr, Anna Orekhova, Vinciane Rebours, Jonas Rosendahl, Andrea Párniczky, Péter Hegyi, Akira Sasaki, Fumiya Kataoka, Yu Tanaka, Shin Hamada, Miklós Sahin-Tóth, Eszter Hegyi, Claude Férec, Atsushi Masamune, Heiko Witt

MARC

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245 1 0 |a Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis  |b a possible new susceptibility gene  |c Agnieszka Magdalena Rygiel, Lara Sophie Unger, Franziska Lena Sörgel, Emmanuelle Masson, Ryotaro Matsumoto, Maren Ewers, Jian-Min Chen, Peter Bugert, Louis Buscail, Tomasz Gambin, Grzegorz Oracz, Maria Winiewska-Szajewska, Agnieszka Mianowska, Jarosław Poznanski, Joanna Kosińska, Piotr Stawinski, Rafał Płoski, Dorota Koziel, Stanisław Gluszek, Helmut Laumen, Fredrik Lindgren, J. Matthias Löhr, Anna Orekhova, Vinciane Rebours, Jonas Rosendahl, Andrea Párniczky, Péter Hegyi, Akira Sasaki, Fumiya Kataoka, Yu Tanaka, Shin Hamada, Miklós Sahin-Tóth, Eszter Hegyi, Claude Férec, Atsushi Masamune, Heiko Witt 
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520 |a OBJECTIVE: Non-alcoholic chronic pancreatitis (NACP) frequently develops in the setting of genetic susceptibility associated with alterations in genes that are highly expressed in the pancreas. However, the genetic basis of NACP remains unresolved in a significant number of patients warranting a search for further risk genes. - DESIGN: We analyzed CUZD1, which encodes the CUB and zona pellucida-like domains 1 protein that is found in high levels in pancreatic acinar cells. We sequenced the coding region in 1163 European patients and 2018 European controls. In addition, we analyzed 297 patients and 1070 controls from Japan. We analyzed secretion of wild-type and mutant CUZD1 from transfected cells using Western blotting. - RESULTS: In the European cohort, we detected 30 non-synonymous variants. Using different prediction tools (SIFT, CADD, PROVEAN, PredictSNP) or the combination of these tools, we found accumulation of predicted deleterious variants in patients (p-value range 0.002-0.013; OR range 3.1-5.2). No association was found in the Japanese cohort, in which 13 non-synonymous variants were detected. Functional studies revealed >50% reduced secretion of 7 variants, however, these variants were not significantly enriched in European CP patients. - CONCLUSION: Our data indicate that CUZD1 might be a novel susceptibility gene for NACP. How these variants predispose to pancreatitis remains to be elucidated. 
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650 4 |a CUZD1 
650 4 |a Genetic Predisposition to Disease 
650 4 |a Genetics 
650 4 |a Humans 
650 4 |a Membrane Proteins 
650 4 |a Pancreatitis, Chronic 
650 4 |a Zona Pellucida 
650 4 |a Zymogen granule 
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