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

Abstract

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.

• Authors: Maren Ewers, Denise Epple, Peter Bugert, Jonas Rosendahl, Heiko Witt
• Journal: Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (Pancreatology) Vol. 22 Issue 2 Pg. 244-247 (Mar 2022) ISSN: 1424-3911 [Electronic] Switzerland
• PMID: 35031208 (Publication Type: Journal Article)
• Copyright: Copyright © 2022 IAP and EPC. Published by Elsevier B.V. All rights reserved.

Chemical References

• Group IB Phospholipases A2
• PLA2G1B protein, human

Topics

• Gene Frequency
• Genetic Testing
• Group IB Phospholipases A2 (genetics)
• Humans
• Pancreatitis, Alcoholic (genetics)
• Pancreatitis, Chronic (genetics)
• Sequence Analysis, DNA