Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effects

Abstract Objectives and aims The combination of genetic and environmental factors may contribute to the carcinogenesis of HNC. Despite the reported associations between xeroderma pigmentosum group D (XPD) polymorphisms and HNC, the results have been inconsistent, with different studies reporting var...

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Main Authors: Mohammad Moslem Imani, Ali Ashabi, Farzad Rezaei, Atefe Saffar Shahroudi, Sadegh Kashkouli, Edris Sadeghi, Masoud Sadeghi
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Oral Health
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Online Access:https://doi.org/10.1186/s12903-025-05476-7
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author Mohammad Moslem Imani
Ali Ashabi
Farzad Rezaei
Atefe Saffar Shahroudi
Sadegh Kashkouli
Edris Sadeghi
Masoud Sadeghi
author_facet Mohammad Moslem Imani
Ali Ashabi
Farzad Rezaei
Atefe Saffar Shahroudi
Sadegh Kashkouli
Edris Sadeghi
Masoud Sadeghi
author_sort Mohammad Moslem Imani
collection DOAJ
description Abstract Objectives and aims The combination of genetic and environmental factors may contribute to the carcinogenesis of HNC. Despite the reported associations between xeroderma pigmentosum group D (XPD) polymorphisms and HNC, the results have been inconsistent, with different studies reporting varying results. Therefore, our aim is to assess the association of three XPD polymorphisms (rs13181, rs1799793, and rs238406) in a comprehensive meta-analysis. Materials and methods An exhaustive literature review was performed across several databases, including PubMed, Web of Science, Scopus, and Cochrane Library, up to November 18, 2023, without any restrictions. The effect sizes were presented as the odds ratio (OR) with a 95% confidence interval (CI). Results Thirty-nine articles including 56 studies were entered into the meta-analysis. Evaluating rs13181, rs1799793, and rs238406 polymorphisms in five genetic models, just significant associations were found for rs1799793 polymorphism in heterozygous and dominant models. The findings reported that the ethnicity and the cancer subtype for rs13181, the ethnicity, the sample size, and the control source for rs1799793, and the ethnicity and the control source for rs238406 polymorphisms were effective factors in the pooled results. Trial sequential analysis suggested that the studies included an insufficient number of individuals. Sensitivity analysis reported stability of pooled results. The XPD protein variants were predicted to be benign. Conclusions The study reveals a significant association between the rs1799793 polymorphism and HNC, but not rs13181 and rs238406 polymorphisms. Future studies should also aim to minimize the impact of confounding factors and heterogeneity to ensure more accurate results.
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spelling doaj-art-18c81a7e6ce74fdb80c71e87b2b5d1082025-02-09T12:57:09ZengBMCBMC Oral Health1472-68312025-02-0125111510.1186/s12903-025-05476-7Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effectsMohammad Moslem Imani0Ali Ashabi1Farzad Rezaei2Atefe Saffar Shahroudi3Sadegh Kashkouli4Edris Sadeghi5Masoud Sadeghi6Department of Orthodontics, School of Dentistry, Kermanshah University of Medical SciencesStudents Research Committee, Kermanshah University of Medical SciencesDepartment of Oral and Maxillofacial Surgery, Kermanshah University of Medical SciencesDental Research Center, Dentistry Research Institute, Department of Orthodontics, Dental School, Tehran University of Medical SciencesDepartment of Prosthodontics, Dental School, Ahvaz Jundishapur University of Medical SciencesMedical Biology Research Center, Health Technology Institute, Kermanshah University of Medical SciencesMedical Biology Research Center, Health Technology Institute, Kermanshah University of Medical SciencesAbstract Objectives and aims The combination of genetic and environmental factors may contribute to the carcinogenesis of HNC. Despite the reported associations between xeroderma pigmentosum group D (XPD) polymorphisms and HNC, the results have been inconsistent, with different studies reporting varying results. Therefore, our aim is to assess the association of three XPD polymorphisms (rs13181, rs1799793, and rs238406) in a comprehensive meta-analysis. Materials and methods An exhaustive literature review was performed across several databases, including PubMed, Web of Science, Scopus, and Cochrane Library, up to November 18, 2023, without any restrictions. The effect sizes were presented as the odds ratio (OR) with a 95% confidence interval (CI). Results Thirty-nine articles including 56 studies were entered into the meta-analysis. Evaluating rs13181, rs1799793, and rs238406 polymorphisms in five genetic models, just significant associations were found for rs1799793 polymorphism in heterozygous and dominant models. The findings reported that the ethnicity and the cancer subtype for rs13181, the ethnicity, the sample size, and the control source for rs1799793, and the ethnicity and the control source for rs238406 polymorphisms were effective factors in the pooled results. Trial sequential analysis suggested that the studies included an insufficient number of individuals. Sensitivity analysis reported stability of pooled results. The XPD protein variants were predicted to be benign. Conclusions The study reveals a significant association between the rs1799793 polymorphism and HNC, but not rs13181 and rs238406 polymorphisms. Future studies should also aim to minimize the impact of confounding factors and heterogeneity to ensure more accurate results.https://doi.org/10.1186/s12903-025-05476-7Head and neck neoplasmsXeroderma pigmentosumXPD proteinERCC2 proteinMeta-analysis
spellingShingle Mohammad Moslem Imani
Ali Ashabi
Farzad Rezaei
Atefe Saffar Shahroudi
Sadegh Kashkouli
Edris Sadeghi
Masoud Sadeghi
Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effects
BMC Oral Health
Head and neck neoplasms
Xeroderma pigmentosum
XPD protein
ERCC2 protein
Meta-analysis
title Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effects
title_full Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effects
title_fullStr Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effects
title_full_unstemmed Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effects
title_short Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effects
title_sort association of ercc2 xpd polymorphisms and the risk of head and neck carcinoma a systematic review meta analysis trial sequential analysis network analysis and functional effects
topic Head and neck neoplasms
Xeroderma pigmentosum
XPD protein
ERCC2 protein
Meta-analysis
url https://doi.org/10.1186/s12903-025-05476-7
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