The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis.

Abstract

A nonsense variant (p.W358X) of human pancreatic lipase related protein 2 (PNLIPRP2) is present in different ethnic populations with a high allele frequency. In cell culture experiments, the truncated protein mainly accumulates inside the cells and causes endoplasmic reticulum stress. Here, we tested the hypothesis that variant p.W358X might increase risk for chronic pancreatitis through acinar cell stress. We sequenced exon 11 of PNLIPRP2 in a cohort of 256 subjects with chronic pancreatitis (152 alcoholic and 104 non-alcoholic) and 200 controls of Hungarian origin. We observed no significant difference in the distribution of the truncation variant between patients and controls. We analyzed mRNA expression in human pancreatic cDNA samples and found the variant allele markedly reduced. We conclude that the p.W358X truncation variant of PNLIPRP2 is expressed poorly and has no significant effect on the risk of chronic pancreatitis.

• Authors: Balázs Csaba Németh, Zsófia Gabriella Pesei, Eszter Hegyi, Ákos Szücs, Andrea Szentesi, Péter Hegyi, Mark E Lowe, Miklós Sahin-Tóth
• Journal: PloS one (PLoS One) Vol. 13 Issue 11 Pg. e0206869 ( 2018) ISSN: 1932-6203 [Electronic] United States
• PMID: 30408063 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Mutant Proteins
• Lipase
• pancreatic lipase related protein 2

Topics

• Acinar Cells (metabolism, pathology)
• Adult
• Aged
• Alleles
• Endoplasmic Reticulum Stress (genetics)
• Female
• Gene Expression Regulation, Enzymologic
• Gene Frequency
• Genetic Predisposition to Disease
• Humans
• Lipase (genetics)
• Male
• Middle Aged
• Mutant Proteins (genetics)
• Mutation (genetics)
• Pancreas (pathology)
• Pancreatitis, Chronic (epidemiology, genetics, physiopathology)
• Risk Factors