ArticleThe American journal of gastroenterology2019
Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis.
Article in The American journal of gastroenterology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- TRPV6, a new entrant as a susceptibility gene in chronic pancreatitis: evidence from a systematic review and meta-analysis.BMC gastroenterology · 2026Pooled it
- Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.PloS one · 2022Pooled it
- Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review.Genes · 2021Pooled it
- Temporal intervention of yeast β-glucan and ellagic acid drives low-inflammatory trained immunity phenotype.NPJ science of food · 2026Article
- Article
- Characterization of a PNLIP variant identified in Amish pediatric patients with congenital pancreatic lipase deficiency.Journal of lipid research · 2025Article
- Engineering mouse chymotrypsin B1 for improved trypsinogen degradation.Scientific reports · 2025Article
- Misfolding PRSS1 variant p.Ala61Val in a case of suspected intrauterine pancreatitis.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2025Article
- Case Report: a family report of hereditary pancreatitis caused by SPINK1 and PRSS1 gene mutations.Frontiers in genetics · 2025Article
- SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Article
- Exploring the enigmatic association between PNLIP variants and risk of chronic pancreatitis in a large Chinese cohort.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2024Article
- Characterization of novel PNLIP variants in congenital pancreatic lipase deficiency.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2023Article
- A narrative review on the role of genetics in children with acute recurrent pancreatitis and chronic pancreatitis.Pediatric investigation · 2023Review
- Article
- Functional Imaging and Inhibitor Screening of Human Pancreatic Lipase by a Resorufin-Based Fluorescent Probe.Biosensors · 2023Article
- A Label-Free Fluorescence Aptasensor Based on G-Quadruplex/Thioflavin T Complex for the Detection of Trypsin.Molecules (Basel, Switzerland) · 2022Article
- Arg236 in human chymotrypsin B2 (CTRB2) is a key determinant of high enzyme activity, trypsinogen degradation capacity, and protection against pancreatitis.Biochimica et biophysica acta. Proteins and proteomics · 2022Article
- Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] · 2022Article
- Misfolding-induced chronic pancreatitis in CPA1 N256K mutant mice is unaffected by global deletion of Ddit3/Chop.Scientific reports · 2022Article
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Authors and funding
29 authors at 15 institutions in 8 countries.
Funding
Abstract
objectivesPremature 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. Here, we evaluated pancreatic lipase (PNLIP) as a potential novel susceptibility gene for CP.
methodsWe analyzed all 13 PNLIP exons in 429 nonalcoholic patients with CP and 600 control subjects from Germany, in 632 patients and 957 controls from France, and in 223 patients and 1,070 controls from Japan by DNA sequencing. Additionally, we analyzed selected exons in further 545 patients with CP and 1,849 controls originating from Germany, United States, and India. We assessed the cellular secretion, lipase activity, and proteolytic stability of recombinant PNLIP variants.
resultsIn the German discovery cohort, 8/429 (1.9%) patients and 2/600 (0.3%) controls carried a PNLIP missense variant (P = 0.02, odds ratio [OR] = 5.7, 95% confidence interval [CI] = 1.1-38.9). Variants detected in patients were prone to proteolytic degradation by trypsin and chymotrypsin. In the French replication cohort, protease-sensitive variants were also enriched in patients with early-onset CP (5/632 [0.8%]) vs controls (1/957 [0.1%]) (P = 0.04, OR = 7.6, 95% CI = 0.9-172.9). In contrast, we detected no protease-sensitive variants in the non-European populations. In the combined European data, protease-sensitive variants were found in 13/1,163 cases (1.1%) and in 3/3,000 controls (0.1%) (OR = 11.3, 95% CI = 3.0-49.9, P < 0.0001).
conclusionsOur data indicate that protease-sensitive PNLIP variants are novel genetic risk factors for the development of CP.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.