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

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 teste...

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Autores principales: Németh, Balázs Csaba, Pesei, Zsófia Gabriella, Hegyi, Eszter, Szücs, Ákos, Szentesi, Andrea, Hegyi, Péter, Lowe, Mark E., Sahin-Tóth, Miklós
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226108/
https://www.ncbi.nlm.nih.gov/pubmed/30408063
http://dx.doi.org/10.1371/journal.pone.0206869
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author Németh, Balázs Csaba
Pesei, Zsófia Gabriella
Hegyi, Eszter
Szücs, Ákos
Szentesi, Andrea
Hegyi, Péter
Lowe, Mark E.
Sahin-Tóth, Miklós
author_facet Németh, Balázs Csaba
Pesei, Zsófia Gabriella
Hegyi, Eszter
Szücs, Ákos
Szentesi, Andrea
Hegyi, Péter
Lowe, Mark E.
Sahin-Tóth, Miklós
author_sort Németh, Balázs Csaba
collection PubMed
description 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.
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spelling pubmed-62261082018-11-19 The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis Németh, Balázs Csaba Pesei, Zsófia Gabriella Hegyi, Eszter Szücs, Ákos Szentesi, Andrea Hegyi, Péter Lowe, Mark E. Sahin-Tóth, Miklós PLoS One Research Article 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. Public Library of Science 2018-11-08 /pmc/articles/PMC6226108/ /pubmed/30408063 http://dx.doi.org/10.1371/journal.pone.0206869 Text en © 2018 Németh et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Németh, Balázs Csaba
Pesei, Zsófia Gabriella
Hegyi, Eszter
Szücs, Ákos
Szentesi, Andrea
Hegyi, Péter
Lowe, Mark E.
Sahin-Tóth, Miklós
The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis
title The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis
title_full The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis
title_fullStr The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis
title_full_unstemmed The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis
title_short The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis
title_sort common truncation variant in pancreatic lipase related protein 2 (pnliprp2) is expressed poorly and does not alter risk for chronic pancreatitis
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6226108/
https://www.ncbi.nlm.nih.gov/pubmed/30408063
http://dx.doi.org/10.1371/journal.pone.0206869
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