Genetic Risk Factors for Pancreatic Disorders
Open accessAbstract
A combination of genetic, environmental, and metabolic factors contribute to the development and recurrence of acute and chronic pancreatitis; information on all of these is required to manage patients effectively. For example, variants that affect regulation of the protease, serine (PRSS)1-PRSS2, and claudin (CLDN)2 loci, rather than their coding sequences, interact with other genetic and environmental factors to affect disease development. New strategies are needed to use these data and determine their contribution to pathogenesis, because these variants differ from previously studied, rare variants in exons (coding regions) of genes such as PRSS1, SPINK1, cystic fibrosis transmembrane conductance regulator (CFTR), chymotrypsin (CTR)C, and calcium-sensing receptor (CASR). Learning how various genetic factors affect pancreatic cells and systems could lead to etiology-based therapies rather than treatment of symptoms.
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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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References 122 · Cited by 305
- Authors
- Whitcomb, D. C.
- Affiliations
- University of Pittsburgh (US)
- Corresponding author
- Whitcomb, David C.
- ORCID
- Whitcomb, David C.
- Venue
- Gastroenterology
- Publisher
- Elsevier BV
- Published
- 2013-05
- Volume
- 144
- Issue
- 6
- Pages
- 1292-1302
- ISSN
- 0016-5085 (ISSN-L)
- PMC
- PMC3684061
- OpenAlex
- W1995243958
- Cited by
- 305
- References
- 122
- Citations by year
- 2026: 18 · 2025: 16 · 2024: 22 · 2023: 12 · 2022: 18 · 2021: 29 · 2020: 22 · 2019: 27 · 2018: 32 · 2017: 19 · 2016: 28 · 2015: 32 · 2014: 26 · 2013: 4
- FWCI
- 5.42
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Gastroenterology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK061451, R01DK054709, R56DK061451)
- 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 › Genetics › Genetic Associations and Epidemiology
- Keywords
- genetic risk factors, acute pancreatitis, chronic pancreatitis, claudin-2, non-coding variants, SPINK1, CFTR, trypsinogen, calcium-sensing receptor, pathogenesis
- MeSH terms
- Acute Disease, Humans, Pancreatic Diseases, Phenotype, Prognosis, Risk Factors, Time Factors, Disease Progression, Genetic Predisposition to Disease, Pancreatitis, Chronic
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