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Association between functional polymorphism in EGF gene and malignant melanoma
Majid Shahbazi1, Vera Pravica, Najma Nasreen
1Immunology Research Group, School of Biological Sciences, Stopford Building, University of Manchester, Manchester M13 9PT, UK.
Lancet (London, England)
|February 15, 2002
Summary
Genetic variations in epidermal growth factor (EGF) influence malignant melanoma risk. Individuals with the EGF 61*G allele showed higher EGF production, linked to increased tumor thickness and melanoma susceptibility.
Area of Science:
- Genetics
- Dermatology
- Oncology
Background:
- Malignant melanoma incidence is rising, with limited understanding of genetic factors influencing susceptibility and prognosis.
- Epidermal growth factor (EGF) plays a role in cell proliferation, making it a candidate gene for melanoma research.
Purpose of the Study:
- To investigate genetic polymorphisms in the EGF gene and their association with malignant melanoma risk and outcome.
- To determine if EGF gene variations correlate with EGF production levels.
Main Methods:
- Genotyping of 135 melanoma patients and 99 controls for EGF gene polymorphisms using restriction-fragment-length polymorphism (RFLP) analysis.
- Quantification of in-vitro EGF production in peripheral-blood mononuclear cells from 34 controls, correlated with EGF genotypes.
Main Results:
- A single nucleotide substitution (G to A) at position 61 of the EGF gene (EGF 61*A/G) was identified.
- Individuals with the EGF 61*G allele exhibited significantly higher EGF production compared to those with the 61*A allele.
- The EGF 61*G/G genotype was associated with increased Breslow thickness and a higher risk of malignant melanoma (OR 4.9).
Conclusions:
- The study suggests a potential link between higher EGF production and the development of malignant melanoma.
- EGF gene polymorphisms may represent a genetic risk factor for malignant melanoma.
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