Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.2
2.8
Journals
Genes
Special Issues
Molecular Genetics of Pancreatitis
share announcement

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 7309

Special Issue Editors

Dr. Jian-Min Chen

E-Mail Website
Guest Editor
Directeur de Recherche Institut National de la Santé et de la Recherche Médicale (INSERM) U1078 and EFS, Université de Bretagne Occidentale (UBO), F-29200 Brest, France
Interests: chronic pancreatitis; genetics; mutational mechanisms; mutation; human genetic disease
Special Issues, Collections and Topics in MDPI journals
Dr. Wen-Bin Zou

E-Mail Website
Guest Editor
Department of Gastroenterology, Changhai Hospital, The Secondary Military Medical University, Shanghai 200433, China
Interests: chronic pancreatitis; endoscopy; human genetic disease; mouse models; pancreatic diseases

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

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

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

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

25 pages, 1349 KiB  
Article
Importance of Polymorphisms in the Gene of Paraoxonase-1 (SNP rs662) and Apolipoprotein A-I (SNP rs670 and rs5069) in Non-Smoking and Smoking Healthy Subjects and Patients with Acute Pancreatitis
by Milena Ściskalska and Halina Milnerowicz
Genes 2022, 13(11), 1968; https://doi.org/10.3390/genes13111968 - 28 Oct 2022
Cited by 3 | Viewed by 1856
Abstract
Oxidative stress has been implicated in the initiation of acute pancreatitis (AP). HDL is considered to be a preventing factor against cell membrane oxidation, thanks to the presence on its surface of apolipoprotein A-I (apoA-I) and paraoxonase-1 (PON1), which activity can be modified [...] Read more.
Oxidative stress has been implicated in the initiation of acute pancreatitis (AP). HDL is considered to be a preventing factor against cell membrane oxidation, thanks to the presence on its surface of apolipoprotein A-I (apoA-I) and paraoxonase-1 (PON1), which activity can be modified by genetic and environmental factors. The impact of SNP rs662 in the PON1 gene and SNP rs670 and rs5069 in the APOAI gene on PON1 activities and its concentration in the population of AP patients and healthy volunteers was investigated. In the group of patients with AP, a decreased HDL concentration and PON1 activities were observed. A decrease in the aryloesterase and lactonase activities of PON1 in AP patients with the TT genotype for SNP rs662 (especially in smokers) was found. In the group of patients with the AA genotype (rs670), the highest concentrations of HDL and apoA-I were observed, which were gradually decreasing in the course of AP. Changes in the concentration of apoA-I were associated with the changes in the concentration and activities of PON1 in the AP patients with the AA genotype for SNP rs670. A decreasing apoA-I concentration contributing to lowering PON1 concentration and its activities during the hospitalization of AP patients with the CC genotype for SNP rs5069 were shown. Therefore, more susceptibility of persons with the CC genotype for SNP rs5069 to pro/antioxidative imbalance was shown. In this process, an important role was played by the HDL level and its interaction with PON1 and apoA-I. Full article
(This article belongs to the Special Issue Molecular Genetics of Pancreatitis)
►▼ Show Figures

Figure 1

14 pages, 4296 KiB  
Article
Single-Cell Transcriptomic Analysis of the Mouse Pancreas: Characteristic Features of Pancreatic Ductal Cells in Chronic Pancreatitis
by Xiaotong Mao, Shenghan Mao, Lei Wang, Hui Jiang, Shunjiang Deng, Yuanchen Wang, Jun Ye, Zhaoshen Li, Wenbin Zou and Zhuan Liao
Genes 2022, 13(6), 1015; https://doi.org/10.3390/genes13061015 - 5 Jun 2022
Cited by 5 | Viewed by 4563
Abstract
Chronic pancreatitis (CP) is a fibroinflammatory disorder of the pancreas. Our understanding of CP pathogenesis is partly limited by the incomplete characterization of pancreatic cell types. Here, we performed single-cell RNA sequencing on 3825 cells from the pancreas of one control mouse and [...] Read more.
Chronic pancreatitis (CP) is a fibroinflammatory disorder of the pancreas. Our understanding of CP pathogenesis is partly limited by the incomplete characterization of pancreatic cell types. Here, we performed single-cell RNA sequencing on 3825 cells from the pancreas of one control mouse and mice with caerulein-induced CP. An analysis of the single-cell transcriptomes revealed 16 unique clusters and cell type-specific gene expression patterns in the mouse pancreas. Sub-clustering of the pancreatic mesenchymal cells from the control mouse revealed four clusters of cells with specific gene expression profiles (combinatorial expressions of Smoc2, Cxcl14, Tnfaip6, and Fn1). We observed that immune cells in the pancreas of the CP mice were abundant and diverse in cellular type. Compared to the control, 547 upregulated genes (including Mmp7, Ttr, Rgs5, Adh1, and Cldn2) and 257 downregulated genes were identified in ductal cells from the CP group. The elevated expression levels of MMP7 and TTR were further verified in the pancreatic ducts of CP patients. This study provides a preliminary description of the single-cell transcriptome profiles of mouse pancreata and accurately demonstrates the characteristics of pancreatic ductal cells in CP. The findings provide insight into novel disease-specific biomarkers and potential therapeutic targets of CP. Full article
(This article belongs to the Special Issue Molecular Genetics of Pancreatitis)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop