Genetic analysis of pancreatic phospholipase A2 (PLA2G1B) in patients with chronic pancreatitis.

Autor: Ewers M; Pediatric Nutritional Medicine & Else Kröner-Fresenius-Centre for Nutritional Medicine (EKFZ), Technical University Munich (TUM), Freising, Germany., Epple D; Pediatric Nutritional Medicine & Else Kröner-Fresenius-Centre for Nutritional Medicine (EKFZ), Technical University Munich (TUM), Freising, Germany; Department of Pediatrics, MRI, Technical University Munich (TUM), Munich, Germany., Bugert P; Institute of Transfusion Medicine and Immunology, Heidelberg University, Medical Faculty Mannheim, German Red Cross Blood Service Baden, Württemberg, Hessen, Mannheim, Germany., Rosendahl J; Department of Internal Medicine I, Martin Luther University, Halle, Germany., Witt H; Pediatric Nutritional Medicine & Else Kröner-Fresenius-Centre for Nutritional Medicine (EKFZ), Technical University Munich (TUM), Freising, Germany. Electronic address: heiko.witt@tum.de.
Jazyk: angličtina
Zdroj: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] [Pancreatology] 2022 Mar; Vol. 22 (2), pp. 244-247. Date of Electronic Publication: 2022 Jan 07.
DOI: 10.1016/j.pan.2022.01.003
Abstrakt: Background: Genetic mutations in various pancreatic enzymes or their counteracting proteins have been linked to chronic pancreatitis. In particular, variants in the genes encoding pancreatic lipase (PNLIP) and carboxyl ester lipase (CEL) have been associated with pancreatitis. Therefore, we investigated pancreatic phospholipase A2 (PLA2G1B) as a promising candidate gene in patients with chronic pancreatitis.
Methods: We analyzed all coding exons and adjacent intronic regions of PLA2G1B in 416 German patients with non-alcoholic chronic pancreatitis (NACP) and 186 control subjects by direct DNA sequencing.
Results: We detected 2 frequent synonymous variants in exon 3: c.222T>C (p.Y74 = ) and c.294G>A (p.S98 = ). The genotype and allele frequencies of these variants were similar between patients and controls (c.222 TC: 9.6% in NACP vs. 9.7% in controls; c.222CC: 0.2% in NACP vs. 0% in controls; c.294 GA: 31.3% in NACP vs. 28.0% in controls; c.294AA: 2.4% in NACP vs. 1.1% in controls). All p-values were non-significant. In addition, we found one synonymous variant, c.138C>T (p.N46 = ) and one non-synonymous variant, c.244A>G (p.S82G), in a single case each.
Conclusions: Our results suggest that genetic alterations in PLA2G1B do not predispose to the development of non-alcoholic chronic pancreatitis.
Competing Interests: Declaration of competing interest The authors report no conflicts of interest.
(Copyright © 2022 IAP and EPC. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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