The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review

Single-nucleotide polymorphisms (SNPs) play an essential role in various malignancies, but their role in cholangiocarcinoma (CCA) remains to be elucidated. Therefore, the purpose of this systematic review was to evaluate the association between SNPs and CCA, focusing on tumorigenesis and prognosis....

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Main Authors: Guanwu Wang, Lara Rosaline Heij, Dong Liu, Edgar Dahl, Sven Arke LANG, Tom Florian Ulmer, Tom LUEDDE, Ulf Peter Neumann, Jan Bednarsch
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Cancers
Subjects:
Online Access:https://www.mdpi.com/2072-6694/14/23/5969
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author Guanwu Wang
Lara Rosaline Heij
Dong Liu
Edgar Dahl
Sven Arke LANG
Tom Florian Ulmer
Tom LUEDDE
Ulf Peter Neumann
Jan Bednarsch
author_facet Guanwu Wang
Lara Rosaline Heij
Dong Liu
Edgar Dahl
Sven Arke LANG
Tom Florian Ulmer
Tom LUEDDE
Ulf Peter Neumann
Jan Bednarsch
author_sort Guanwu Wang
collection DOAJ
description Single-nucleotide polymorphisms (SNPs) play an essential role in various malignancies, but their role in cholangiocarcinoma (CCA) remains to be elucidated. Therefore, the purpose of this systematic review was to evaluate the association between SNPs and CCA, focusing on tumorigenesis and prognosis. A systematic literature search was carried out using PubMed, Embase, Web of Science and the Cochrane database for the association between SNPs and CCA, including literature published between January 2000 and April 2022. This systematic review compiles 43 SNPs in 32 genes associated with CCA risk, metastatic progression and overall prognosis based on 34 studies. Susceptibility to CCA was associated with SNPs in genes related to inflammation (PTGS2/COX2, IL6, IFNG/IFN-γ, TNF/TNF-α), DNA repair (ERCC1, MTHFR, MUTYH, XRCC1, OGG1), detoxification (NAT1, NAT2 and ABCC2), enzymes (SERPINA1, GSTO1, APOBEC3A, APOBEC3B), RNA (HOTAIR) and membrane-based proteins (EGFR, GAB1, KLRK1/NKG2D). Overall oncological prognosis was also related to SNPs in eight genes (GNB3, NFE2L2/NRF2, GALNT14, EGFR, XRCC1, EZH2, GNAS, CXCR1). Our findings indicate that multiple SNPs play different roles at various stages of CCA and might serve as biomarkers guiding treatment and allowing oncological risk assessment. Considering the differences in SNP detection methods, patient ethnicity and corresponding environmental factors, more large-scale multicentric investigations are needed to fully determine the potential of SNP analysis for CCA susceptibility prediction and prognostication.
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spelling doaj.art-bed071a1af554b57b6be28eb3c10e2e82023-11-24T10:41:39ZengMDPI AGCancers2072-66942022-12-011423596910.3390/cancers14235969The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic ReviewGuanwu Wang0Lara Rosaline Heij1Dong Liu2Edgar Dahl3Sven Arke LANG4Tom Florian Ulmer5Tom LUEDDE6Ulf Peter Neumann7Jan Bednarsch8Department of Surgery and Transplantation, University Hospital RWTH Aachen, 52074 Aachen, GermanyDepartment of Surgery and Transplantation, University Hospital RWTH Aachen, 52074 Aachen, GermanyDepartment of Surgery and Transplantation, University Hospital RWTH Aachen, 52074 Aachen, GermanyInstitute of Pathology, University Hospital RWTH Aachen, 52074 Aachen, GermanyDepartment of Surgery and Transplantation, University Hospital RWTH Aachen, 52074 Aachen, GermanyDepartment of Surgery and Transplantation, University Hospital RWTH Aachen, 52074 Aachen, GermanyDepartment of Gastroenterology, Hepatology and Infectious Diseases, University Hospital Heinrich Heine University Duesseldorf, 40225 Duesseldorf, GermanyDepartment of Surgery and Transplantation, University Hospital RWTH Aachen, 52074 Aachen, GermanyDepartment of Surgery and Transplantation, University Hospital RWTH Aachen, 52074 Aachen, GermanySingle-nucleotide polymorphisms (SNPs) play an essential role in various malignancies, but their role in cholangiocarcinoma (CCA) remains to be elucidated. Therefore, the purpose of this systematic review was to evaluate the association between SNPs and CCA, focusing on tumorigenesis and prognosis. A systematic literature search was carried out using PubMed, Embase, Web of Science and the Cochrane database for the association between SNPs and CCA, including literature published between January 2000 and April 2022. This systematic review compiles 43 SNPs in 32 genes associated with CCA risk, metastatic progression and overall prognosis based on 34 studies. Susceptibility to CCA was associated with SNPs in genes related to inflammation (PTGS2/COX2, IL6, IFNG/IFN-γ, TNF/TNF-α), DNA repair (ERCC1, MTHFR, MUTYH, XRCC1, OGG1), detoxification (NAT1, NAT2 and ABCC2), enzymes (SERPINA1, GSTO1, APOBEC3A, APOBEC3B), RNA (HOTAIR) and membrane-based proteins (EGFR, GAB1, KLRK1/NKG2D). Overall oncological prognosis was also related to SNPs in eight genes (GNB3, NFE2L2/NRF2, GALNT14, EGFR, XRCC1, EZH2, GNAS, CXCR1). Our findings indicate that multiple SNPs play different roles at various stages of CCA and might serve as biomarkers guiding treatment and allowing oncological risk assessment. Considering the differences in SNP detection methods, patient ethnicity and corresponding environmental factors, more large-scale multicentric investigations are needed to fully determine the potential of SNP analysis for CCA susceptibility prediction and prognostication.https://www.mdpi.com/2072-6694/14/23/5969cholangiocarcinomasingle-nucleotide polymorphism (SNP)cancer progressioncancer susceptibilityprognosissystematic review
spellingShingle Guanwu Wang
Lara Rosaline Heij
Dong Liu
Edgar Dahl
Sven Arke LANG
Tom Florian Ulmer
Tom LUEDDE
Ulf Peter Neumann
Jan Bednarsch
The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review
Cancers
cholangiocarcinoma
single-nucleotide polymorphism (SNP)
cancer progression
cancer susceptibility
prognosis
systematic review
title The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review
title_full The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review
title_fullStr The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review
title_full_unstemmed The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review
title_short The Role of Single-Nucleotide Polymorphisms in Cholangiocarcinoma: A Systematic Review
title_sort role of single nucleotide polymorphisms in cholangiocarcinoma a systematic review
topic cholangiocarcinoma
single-nucleotide polymorphism (SNP)
cancer progression
cancer susceptibility
prognosis
systematic review
url https://www.mdpi.com/2072-6694/14/23/5969
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