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. 2025 Feb 8;25(1):201.
doi: 10.1186/s12903-025-05476-7.

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

Mohammad Moslem Imani  1 , Ali Ashabi  2 , Farzad Rezaei  3 , Atefe Saffar Shahroudi  4 , Sadegh Kashkouli  5 , Edris Sadeghi  6 , Masoud Sadeghi  7
Affiliations

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

Mohammad Moslem Imani et al. BMC Oral Health. .

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.

Keywords: ERCC2 protein; Head and neck neoplasms; Meta-analysis; XPD protein; Xeroderma pigmentosum.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: Not applicable. Consent for publication: Not applicable. Institutional review board statement: Not applicable. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Flowchart of study selection
Fig. 2
Fig. 2
Polyphen-2 functional prediction of amino acid substitution produced by non-synonymous mutation of XPD. (A) rs13181 and (B) rs1799793 polymorphisms
Fig. 3
Fig. 3
Protein-protein interaction (PPI) network of the examined genes. The nodes indicate proteins and the edges indicate the number of interactions. Different colors represent different levels of evidence of a connection between proteins. This analysis had an average confidence score of more than 0.900. The PPI enrichment had a p-value less than 1.0e-16, a total of 11 nodes and 49 edges, and an average node degree of 8.91
See this image and copyright information in PMC

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