Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis
Open accessAbstract
Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the digestive protease trypsin has a fundamental pathogenetic role. Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis. Two alterations in this gene, p.R254W and p.K247_R254del, were significantly overrepresented in the pancreatitis group, being present in 30 of 901 (3.3%) affected individuals but only 21 of 2,804 (0.7%) controls (odds ratio (OR) = 4.6; confidence interval (CI) = 2.6-8.0; P = 1.3 x 10(-7)). A replication study identified these two variants in 10 of 348 (2.9%) individuals with alcoholic chronic pancreatitis but only 3 of 432 (0.7%) subjects with alcoholic liver disease (OR = 4.2; CI = 1.2-15.5; P = 0.02). CTRC variants were also found in 10 of 71 (14.1%) Indian subjects with tropical pancreatitis but only 1 of 84 (1.2%) healthy controls (OR = 13.6; CI = 1.7-109.2; P = 0.0028). Functional analysis of the CTRC variants showed impaired activity and/or reduced secretion. The results indicate that loss-of-function alterations in CTRC predispose to pancreatitis by diminishing its protective trypsin-degrading activity.
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PRSS1, CPA1 and CTRC are associated with significantly increased risk of developing pancreatitis.
“The pancreatitis susceptibility genes, PRSS1, CPA1 and CTRC, are associated with significantly increased risk of developing pancreatitis.”
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- Authors
- Rosendahl, J., Witt, H., Szmola, R., Bhatia, E., Ózsvári, B., Landt, O., Schulz, H.-U., Gress, T. M., Pfützer, R., Löhr, M., Kovacs, P., Blüher, M., Stumvoll, M., Choudhuri, G., Hegyi, P., te Morsche, R. H., Drenth, J. P., Truninger, K., Macek, M., Puhl, G., Witt, U., Schmidt, H., Büning, C., Ockenga, J., Kage, A., Groneberg, D. A., Nickel, R., Berg, T., Wiedenmann, B., Bödeker, H., Keim, V., Mössner, J., Teich, N., & Sahin-Tóth, M.
- Affiliations
- Leipzig University (DE)
- Stiftung Charité (DE)
- Boston University (US)
- Sanjay Gandhi Post Graduate Institute of Medical Sciences (IN)
- TIB Molbiol (Germany) (DE)
- Otto-von-Guericke-Universität Magdeburg (DE)
- Philipps University of Marburg (DE)
- Heidelberg University (DE)
- Karolinska University Hospital (SE)
- University of Szeged (HU)
- Radboud University Nijmegen (NL)
- University Hospital of Bern (CH)
- University Hospital Münster (DE)
- Charité – Universitätsmedizin Berlin (DE)
- ORCID
- Venue
- Nature Genetics
- Published
- 2007-12-02
- Volume
- 40
- Issue
- 1
- Pages
- 78-82
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC2650829
- OpenAlex
- W2083214486
- Cited by
- 439
- References
- 17
- Citations by year
- 2026: 11 · 2025: 15 · 2024: 22 · 2023: 18 · 2022: 22 · 2021: 19 · 2020: 26 · 2019: 24 · 2018: 29 · 2017: 32 · 2016: 28 · 2015: 37 · 2014: 25 · 2013: 24 · 2012: 18
- FWCI
- 22.63
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK058088)
- Topics
- Health Sciences › Medicine › Surgery › Pancreatitis Pathology and Treatment
- Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Protease and Inhibitor Mechanisms
- Keywords
- CTRC, chronic pancreatitis, genetic variants, loss-of-function mutations, trypsin degradation, tropical pancreatitis, alcoholic pancreatitis, hereditary pancreatitis, genetic susceptibility, enzyme activity, enzyme secretion
- MeSH terms
- Cell Line, Chymotrypsin, Germany, Humans, Models, Molecular, Molecular Sequence Data, Mutation, Pancreatitis, Alcoholic, Pancreatitis, Chronic
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