Association of Plasma EPB41L3 Gene Expression and Methylation with the Risk of Developing Colorectal Cancer

Zhixin GENG; Shenjian XU

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Zhixin GENG, Shenjian XU. Association of Plasma EPB41L3 Gene Expression and Methylation with the Risk of Developing Colorectal Cancer[J]. Journal of Kunming Medical University.

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Zhixin GENG, Shenjian XU. Association of Plasma EPB41L3 Gene Expression and Methylation with the Risk of Developing Colorectal Cancer[J]. Journal of Kunming Medical University.

Zhixin GENG, Shenjian XU. Association of Plasma EPB41L3 Gene Expression and Methylation with the Risk of Developing Colorectal Cancer[J]. Journal of Kunming Medical University.

Citation:

Zhixin GENG, Shenjian XU. Association of Plasma EPB41L3 Gene Expression and Methylation with the Risk of Developing Colorectal Cancer[J]. Journal of Kunming Medical University.

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Association of Plasma EPB41L3 Gene Expression and Methylation with the Risk of Developing Colorectal Cancer

Zhixin GENG,
Shenjian XU^,

Department of Laboratory Medicine，Suqian Hospital，Jiangsu Province People’s Hospital，Suqian Jiangsu 223800，China

Received Date: 2026-01-07

Abstract

Abstract

Objective To investigate the correlation between plasma EPB41L3 gene expression level and methylation status with colorectal cancer （CRC）, and to evaluate its potential as a biomarker for early screening and risk assessment of CRC. Methods A total of 210 colorectal cancer patients diagnosed between May 2022 and October 2025 at Suqian Hospital affiliated with Jiangsu Province People’s Hospital were enrolled as the case group, with 207 healthy individuals from the same period as the control group. Peripheral blood plasma samples were collected. The expression level of EPB41L3 gene mRNA was measured using quantitative real-time PCR （qRT-PCR）. The methylation status of the EPB41L3 gene promoter region was qualitatively detected using bisulfite conversion combined with methylation-specific fluorescent quantitative PCR （MethyLight）. Methylation positivity or negativity was determined by comparing the Ct values of samples with methylation-positive controls. Plasma EPB41L3 protein expression was measured using Western blotting. Differences in EPB41L3 expression and promoter methylation between the case and control groups were compared. A multivariate logistic regression model was used to analyze the independent association of EPB41L3 expression and methylation with CRC risk. Differences in EPB41L3 gene expression and promoter region methylation status across different clinical characteristics and their effects were analyzed, and the diagnostic efficacy of individual and combined indicators for colorectal cancer was evaluated. Results The positivity rate of EPB41L3 methylation was significantly higher in the case group than in the control group, while the relative expression levels of EPB41L3 mRNA and protein were significantly lower in the case group （all P < 0.05）. High expression of EPB41L3 gene mRNA and high expression of EPB41L3 protein were both significantly associated with decreased colorectal cancer risk （P < 0.05）. Positive methylation of EPB41L3 gene was significantly associated with increased colorectal cancer risk （P < 0.05）. EPB41L3 mRNA and protein expression levels were significantly lower in patients with advanced clinical stage （III–IV）, poor differentiation, and lymph node metastasis, while the methylation positivity rate was significantly higher in the corresponding groups （all P < 0.05）. Combined detection of EPB41L3 methylation, mRNA expression, and protein expression showed good diagnostic value for CRC and early-stage CRC （stage I–II） with AUC values of 0.913 and 0.894, respectively, showing good sensitivity and specificity. Conclusion Hypermethylation and downregulation of EPB41L3 in plasma are closely associated with an increased risk of CRC and adverse clinicopathological features. Combined detection of these three markers has important potential auxiliary value in the diagnosis of colorectal cancer, including early-stage colorectal cancer.
- Colorectal cancer,
- EPB41L3 gene,
- Methylation,
- Disease risk

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References(27)

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