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CC BY 4.0 · Glob Med Genet 2023; 10(04): 324-334
DOI: 10.1055/s-0043-1776981
Review Article

Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis

Erum Khan
1   Department of Neurology, Alzheimer's Disease Research Center, The university of Alabama at Birmingham, Birmingham, United States
,
Soura Chakrabarty
2   Department of Pathology, University of Cambridge, Cambridge, United Kingdom
,
Sanobar Shariff
3   Yerevan State Medical University, Yerevan, Armenia
,
Mainak Bardhan
4   Department of Medical Oncology, Miami Cancer Institute, Baptist Health South Florida, Miami, Florida, United States
› Institutsangaben Funding None.
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Abstract

Chronic pancreatitis is a long-term fibroinflammatory condition of the pancreas with varying incidences across countries. The recent increase in its occurrence implies the involvement of genetic, hereditary, and unconventional risk factors. However, there is a lack of updated literature on recent advances in genetic polymorphisms of chronic pancreatitis. Therefore, this review aims to present recent findings on the genetic implications of chronic pancreatitis based on individual gene mechanisms and to discuss epigenetics and epistasis involved in the disease. Four mechanisms have been implicated in the pathogenesis of chronic pancreatitis, including premature activation of proteases, endoplasmic reticulum stress, ductal pathway dysfunction, and inflammatory pathway dysfunction. These mechanisms involve genes such as PRSS1, PRSS2, SPINK, CEL, PNLIP, PNLIPRP2, CFTR, CaSR, CLDN2, Alpha 1 antitrypsin, and GGT1. Studying genetic polymorphisms on the basis of altered genes and their products may aid clinicians in identifying predispositions in patients with and without common risk factors. Further research may also identify associations between genetic predispositions and disease staging or prognosis, leading to personalized treatment protocols and precision medicine.

Keywords

pancreatitis - chronic pancreatitis - genetics - genomics


Publikationsverlauf

Artikel online veröffentlicht:
22. November 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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