Publications by authors named "Maren Ewers"
The CEL-HYB1 hybrid allele of the carboxyl ester lipase (CEL) gene and its pseudogene (CELP) has been associated with chronic pancreatitis (CP). Recent work indicated that amino acid positions 488 and 548 in CEL-HYB1 determined pathogenicity. Haplotype Thr488-Ile548 was associated with CP while haplotypes Thr488-Thr548 and Ile488-Thr548 were benign.
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- Genetic predisposition is significant for early-onset chronic pancreatitis (CP), with some cases linked to genetic changes in digestive enzyme genes, while others remain unexplained.
- Researchers investigated CTRL, a chymotrypsin-like protease, by screening over 1,000 CP patients and 1,500 controls for genetic variants, analyzing their effects on enzyme secretion and activity.
- Although several CTRL variants were identified, many did not impact function or were equally present in both patients and controls, suggesting that CTRL is probably not a major contributor to the development of CP.
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- This study investigates the link between the ATG16L1 gene variant c.898A > G (p.T300A) and pancreatitis, given previous findings on autophagy's role in the disease.
- Researchers studied 777 pancreatitis patients and 551 control subjects, examining the presence of this gene variant using genetic analysis.
- The results showed no significant differences in the occurrence of the variant between patients and controls, indicating it likely does not influence the development or severity of pancreatitis.
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- Variants in the PRSS1 and PRSS2 genes are linked to chronic pancreatitis (CP), prompting research into whether a deletion variant affecting two trypsinogen pseudogenes (PRSS3P2 and TRY7) might influence CP risk.
- A study analyzed this deletion in over 4,000 participants from different countries and found that it is associated with a protective effect against CP, especially in French, German, and Japanese populations.
- The research suggests that the deletion enhances the function of remaining genes, leading to regulated PRSS2 expression, which could be crucial in understanding CP susceptibility.
Article Synopsis
- - Researchers studied the potential role of genes AQP12A and AQP12B in chronic pancreatitis (CP) since many non-alcoholic CP cases lack known genetic mutations.
- - DNA sequencing of these genes in 292 CP patients and 143 controls revealed 41 genetic changes, but no significant differences in variants between patient and control groups.
- - The findings indicate that alterations in AQP12A and AQP12B are not linked to the risk of developing non-alcoholic CP, suggesting AQP12B may not be essential for normal pancreatic function.
Background: Genetic alterations in digestive enzymes have been associated with chronic pancreatitis (CP). Recently, chymotrypsin like elastase 3B (CELA3B) emerged as a novel risk gene. Thus, we evaluated CELA3B in two European cohorts with CP.
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- - The study investigates the genetic factors of non-alcoholic chronic pancreatitis (NACP), focusing on the CUZD1 gene, which is highly expressed in pancreatic cells and may contribute to the disease's risk.
- - Researchers analyzed genetic data from thousands of patients and controls in Europe and Japan, finding several non-synonymous variants associated with NACP, especially in the European cohort.
- - The findings suggest CUZD1 could be a new susceptibility gene for NACP, but further research is needed to understand how these genetic variants lead to the development of pancreatitis.
Background: Previous genome-wide association studies (GWAS) identified genome-wide significant risk loci in chronic pancreatitis and investigated underlying disease causing mechanisms by simple overlaps with expression quantitative trait loci (eQTLs), a procedure which may often result in false positive conclusions.
Methods: We conducted a GWAS in 584 non-alcoholic chronic pancreatitis (NACP) patients and 6040 healthy controls. Next, we applied Bayesian colocalization analysis of identified genome-wide significant risk loci from both, our recently published alcoholic chronic pancreatitis (ACP) and the novel NACP dataset, with pancreas eQTLs from the GTEx V8 European cohort to prioritize candidate causal genes and extracted credible sets of shared causal variants.
Article Synopsis
- The study investigates the role of the pancreatic phospholipase A2 gene (PLA2G1B) in patients with chronic pancreatitis, focusing on specific genetic variants that might affect disease development.
- Researchers analyzed the coding regions of PLA2G1B in 416 patients with non-alcoholic chronic pancreatitis and 186 control subjects, finding no significant differences in variant frequencies between the two groups.
- The findings indicate that genetic changes in PLA2G1B are unlikely to contribute to the risk of developing non-alcoholic chronic pancreatitis.
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- Recent studies link loss of function variants of the TRPV6 gene to chronic pancreatitis (CP) in various populations, prompting a new investigation in European cohorts.
- The research involved 152 pediatric CP patients from Poland and 157 non-alcoholic young CP patients from Germany, where the TRPV6 gene was analyzed through advanced sequencing techniques.
- Results revealed 10 new TRPV6 variants in CP patients, specifically identifying certain variants that are significantly more common in Polish and German patients, confirming TRPV6 as a potential susceptibility gene for early-onset chronic pancreatitis.
Background: The calcium sensing receptor (CASR) is a G protein-coupled receptor that is responsible for assessing extracellular Ca levels and thus plays a crucial role in calcium homeostasis. Hypercalcemia is a metabolic risk factor for pancreatitis and rare CASR variants have been described in patients with chronic pancreatitis. At the carboxy-terminal tail of CASR, there is a cluster of three common polymorphisms, p.
View Article and Find Full Text PDFBackground: /Objectives: A recent Genome-wide Association Study (GWAS) in alcoholic chronic pancreatitis (ACP) identified a novel association with the CTRB1-CTRB2 (chymotrypsinogen B1, B2) locus, linked to a 16.6 kb inversion that was confirmed in non-alcoholic chronic pancreatitis (NACP). Moreover, recent findings on the function of CTRB1 and CTRB2 suggest a protective role in pancreatitis development.
View Article and Find Full Text PDFIntestinal transport and sensing processes and their interconnection to metabolism are relevant to pathologies such as malabsorption syndromes, inflammatory diseases, obesity and type 2 diabetes. Constituting a highly selective barrier, intestinal epithelial cells absorb, metabolize, and release nutrients into the circulation, hence serving as gatekeeper of nutrient availability and metabolic health for the whole organism. Next to nutrient transport and sensing functions, intestinal transporters including peptide transporter 1 (PEPT1) are involved in the absorption of drugs and prodrugs, including certain inhibitors of angiotensin-converting enzyme, protease inhibitors, antivirals, and peptidomimetics like β-lactam antibiotics.
View Article and Find Full Text PDFBackground & Aims: Changes in pancreatic calcium levels affect secretion and might be involved in development of chronic pancreatitis (CP). We investigated the association of CP with the transient receptor potential cation channel subfamily V member 6 gene (TRPV6), which encodes a Ca-selective ion channel, in an international cohort of patients and in mice.
Methods: We performed whole-exome DNA sequencing from a patient with idiopathic CP and from his parents, who did not have CP.
Article Synopsis
- - Chronic pancreatitis (CP) can be linked to oxidative stress, particularly through the formation of advanced glycation endproducts (AGE) from methylglyoxal, which is regulated by the enzyme Glyoxalase I (GLO1).
- - A study analyzed genetic variants (SNPs) in GLO1 among 223 alcohol-related CP and 218 non-alcohol-related CP patients compared to 328 controls, using a larger cohort of up to 1,441 samples for further confirmation.
- - Results showed that common GLO1 variants were not significantly associated with an increased risk of chronic pancreatitis in either alcoholic or non-alcoholic cases.
Objectives: Premature activation of the digestive protease trypsin within the pancreatic parenchyma is a critical factor in the pathogenesis of pancreatitis. Alterations in genes that affect intrapancreatic trypsin activity are associated with chronic pancreatitis (CP). Recently, carboxyl ester lipase emerged as a trypsin-independent risk gene.
View Article and Find Full Text PDFIntestinal fructose uptake is mainly mediated by glucose transporter 5 (GLUT5/SLC2A5). Its closest relative, GLUT7, is also expressed in the intestine but does not transport fructose. For rat Glut5, a change of glutamine to glutamic acid at codon 166 (p.
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