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Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis
BACKGROUND/AIMS: A previous history of post-endoscopic retrograde cholangiopancreatography (ERCP) pancreatitis (PEP) is a risk factor for PEP, suggesting that there may be a genetic predisposition to PEP. However, nothing is known about this yet. The aim of this study was to identify genetic variati...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Korean Association of Internal Medicine
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10636551/ https://www.ncbi.nlm.nih.gov/pubmed/37867141 http://dx.doi.org/10.3904/kjim.2022.404 |
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author | Choi, Young Hoon Lim, Younggyun Jang, Dong Kee Ahn, Dong-Won Ryu, Ji Kon Paik, Woo Hyun Kim, Yong-Tae Kim, Ju Han Lee, Sang Hyub |
author_facet | Choi, Young Hoon Lim, Younggyun Jang, Dong Kee Ahn, Dong-Won Ryu, Ji Kon Paik, Woo Hyun Kim, Yong-Tae Kim, Ju Han Lee, Sang Hyub |
author_sort | Choi, Young Hoon |
collection | PubMed |
description | BACKGROUND/AIMS: A previous history of post-endoscopic retrograde cholangiopancreatography (ERCP) pancreatitis (PEP) is a risk factor for PEP, suggesting that there may be a genetic predisposition to PEP. However, nothing is known about this yet. The aim of this study was to identify genetic variations associated with PEP. METHODS: A cohort of high-risk PEP patients was queried from December 2016 to January 2019. For each PEP case, two propensity score-matched controls were selected. Whole exome sequencing was performed using blood samples. Genetic variants reported to be related to pancreatitis were identified. To discover genetic variants that predispose to PEP, a logistic regression analysis with clinical adjustment was performed. Gene-wise analyses were also conducted. RESULTS: Totals of 25 PEP patients and 50 matched controls were enrolled. Among the genetic variants reported to be associated with pancreatitis, only CASR rs1042636 was identified, and it showed no significant difference between the case and control groups. A total of 54,269 non-synonymous variants from 14,313 genes was identified. Logistic regression analysis of these variants showed that the IRF2BP1 rs60158447 GC genotype was significantly associated with the occurrence of PEP (odds ratio 2.248, FDR q value = 0.005). Gene-wise analyses did not show any significant results. CONCLUSIONS: This study found that the IRF2BP1 gene variant was significantly associated with PEP. This genetic variant is a highly targeted PEP risk factor candidate and can be used for screening high-risk PEP groups before ERCP through future validation. (ClinicalTrials.gov no. NCT02928718) |
format | Online Article Text |
id | pubmed-10636551 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Korean Association of Internal Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-106365512023-11-15 Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis Choi, Young Hoon Lim, Younggyun Jang, Dong Kee Ahn, Dong-Won Ryu, Ji Kon Paik, Woo Hyun Kim, Yong-Tae Kim, Ju Han Lee, Sang Hyub Korean J Intern Med Original Article BACKGROUND/AIMS: A previous history of post-endoscopic retrograde cholangiopancreatography (ERCP) pancreatitis (PEP) is a risk factor for PEP, suggesting that there may be a genetic predisposition to PEP. However, nothing is known about this yet. The aim of this study was to identify genetic variations associated with PEP. METHODS: A cohort of high-risk PEP patients was queried from December 2016 to January 2019. For each PEP case, two propensity score-matched controls were selected. Whole exome sequencing was performed using blood samples. Genetic variants reported to be related to pancreatitis were identified. To discover genetic variants that predispose to PEP, a logistic regression analysis with clinical adjustment was performed. Gene-wise analyses were also conducted. RESULTS: Totals of 25 PEP patients and 50 matched controls were enrolled. Among the genetic variants reported to be associated with pancreatitis, only CASR rs1042636 was identified, and it showed no significant difference between the case and control groups. A total of 54,269 non-synonymous variants from 14,313 genes was identified. Logistic regression analysis of these variants showed that the IRF2BP1 rs60158447 GC genotype was significantly associated with the occurrence of PEP (odds ratio 2.248, FDR q value = 0.005). Gene-wise analyses did not show any significant results. CONCLUSIONS: This study found that the IRF2BP1 gene variant was significantly associated with PEP. This genetic variant is a highly targeted PEP risk factor candidate and can be used for screening high-risk PEP groups before ERCP through future validation. (ClinicalTrials.gov no. NCT02928718) Korean Association of Internal Medicine 2023-11 2023-10-23 /pmc/articles/PMC10636551/ /pubmed/37867141 http://dx.doi.org/10.3904/kjim.2022.404 Text en Copyright © 2023 The Korean Association of Internal Medicine https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Choi, Young Hoon Lim, Younggyun Jang, Dong Kee Ahn, Dong-Won Ryu, Ji Kon Paik, Woo Hyun Kim, Yong-Tae Kim, Ju Han Lee, Sang Hyub Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis |
title | Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis |
title_full | Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis |
title_fullStr | Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis |
title_full_unstemmed | Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis |
title_short | Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis |
title_sort | genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10636551/ https://www.ncbi.nlm.nih.gov/pubmed/37867141 http://dx.doi.org/10.3904/kjim.2022.404 |
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