AI 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.
Article 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.
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| http://dx.doi.org/10.1016/j.pan.2022.01.003 | DOI Listing |
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