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Association between functional EGF+61 polymorphism and glioma risk
Bruno Marques Costa1, Paulo Ferreira, Sandra Costa
1Life and Health Sciences Research Institute (ICVS), School of Health Sciences and Department of Production and Systems Engineering, University of Minho, Braga, Portugal.
Summary
The Epidermal Growth Factor (EGF)+61 gene polymorphism, specifically the G allele, increases glioma risk. This genetic variation also enhances EGF promoter activity, suggesting a role in cancer development.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Epidermal Growth Factor (EGF) is crucial in cancer development.
- A specific polymorphism in the EGF gene, known as EGF+61, may influence EGF expression, potentially affecting cancer predisposition and aggressiveness.
Purpose of the Study:
- To investigate the association between the EGF+61 polymorphism and glioma susceptibility.
- To determine the role of the EGF+61 polymorphism in glioma prognosis.
Main Methods:
- A case-control study included 197 glioma patients and 570 controls.
- Univariate and multivariate logistic regression analyses were employed to calculate odds ratios (OR) and 95% confidence intervals (95% CI).
- Luciferase reporter gene assays were conducted to assess the functional impact of the EGF+61 polymorphism on gene expression.
Main Results:
- The G allele of the EGF+61 polymorphism was associated with an increased risk of gliomas (OR, 1.32), glioblastomas (OR, 1.47), and oligodendrogliomas (OR, 1.55).
- Specific genotypes (GG and AG+GG) showed significant associations with higher risks for gliomas and oligodendrogliomas.
- Luciferase assays confirmed that the G variant significantly increased EGF promoter activity compared to the A allele.
Conclusions:
- The EGF+61 polymorphism acts as a susceptibility factor for glioma development.
- The identified polymorphism influences EGF promoter activity, highlighting its mechanistic role in gliomagenesis.
