Molecular Genetics of Pancreatitis
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (20 June 2023) | Viewed by 5352
Special Issue Editors
Interests: chronic pancreatitis; genetics; mutational mechanisms; mutation; human genetic disease
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Pancreatitis (both acute and chronic) is a complex disease that can be caused by genetic and/or environmental factors. Since the identification of a gain-of-function missense variant in the PRSS1 gene as a cause of hereditary pancreatitis in 1996, a diverse array of inherited variants in more than 10 genes/loci (including CFTR, SPINK1, CTRC, CPA1, CEL, CTRB1-CTRB2, CELA3B, PNLIP, CLDN2 and TRPV6) have been reported to cause or predispose to hereditary, familial, idiopathic and/or alcoholic chronic pancreatitis. Most of the known pancreatitis genes encode pancreatic zymogens that are specifically expressed in the pancreatic acinar cells; the corresponding pathogenic variants operate either through a trypsin- or misfolding-dependent pathway. Moreover, hypertriglyceridemia-induced acute pancreatitis is often predisposed by variants in LPL, APOC2, APOA5, GPIHBP1 and LMF1 genes. These genetic findings not only provided penetrating insights into the pathogenesis of pancreatitis, but also served as the basis for personalized prevention and treatment. Nonetheless, some reported gene associations remain to be replicated, the pathogenic mechanisms underlying some replicated disease associations remain to be elucidated, the pathogenic relevance of many genetic variants remains to be determined, and new disease genes remain to be discovered. This Special Issue welcomes all types of contributions that improve our understanding of the genetics of acute and chronic pancreatitis, including but not limited to topics such as genotype–phenotype relationship, gene–environment interaction, new gene and variant discovery, as well as genetic animal models of pancreatitis.
Dr. Jian-Min Chen
Dr. Wen-Bin Zou
Guest Editors
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Keywords
- recurrent acute pancreatitis
- chronic pancreatitis
- gene–environment interaction
- genotype–phenotype relationship
- next-generation sequencing
- functional analysis of genetic variants
- genetic association study
- genetic animal models
- variant classification
- systematic review and meta-analysis
