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MnSOD polymorphism and breast cancer in a population-based case-control study
Kathleen M Egan1, Patricia A Thompson, Linda Titus-Ernstoff
1Department of Medicine, Vanderbilt University Medical Center, Suite 6000 Medical Center East, Nashville, TN 37232-8300, USA. kathleen.egan@vanderbilt.edu
Cancer Letters
|September 10, 2003
Summary
The manganese superoxide dismutase (MnSOD) Ala-9Val polymorphism, linked to free radical quenching, was studied for breast cancer risk. This genetic variation did not show a significant association with breast cancer development in the evaluated population.
Area of Science:
- Genetics and Cancer Epidemiology
- Biomarkers and Disease Risk Assessment
Background:
- The manganese superoxide dismutase (MnSOD) enzyme plays a crucial role in cellular defense against oxidative stress.
- A known polymorphism (Ala-9Val) in the MnSOD signal sequence has been hypothesized to influence breast cancer risk due to altered free radical-quenching activity.
Purpose of the Study:
- To investigate the association between the MnSOD Ala-9Val signal sequence polymorphism and the risk of developing breast cancer.
- To evaluate if carrying one or two Ala alleles modifies breast cancer risk compared to the wild-type Val genotype.
Main Methods:
- A population-based case-control study design was employed.
- The study included 476 breast cancer cases and 502 controls.
- Genotyping for the MnSOD Ala-9Val polymorphism was performed on all participants.
Main Results:
- No statistically significant elevation in relative risk for breast cancer was observed in women with one Ala allele (RR: 1.27; 95% CI: 0.91-1.77).
- Similarly, women with two Ala alleles did not exhibit a significantly increased risk (RR: 1.18; 95% CI: 0.81-1.73) compared to Val homozygotes.
- The overall analysis did not support an association between the Ala-9Val MnSOD polymorphism and breast cancer incidence.
Conclusions:
- The findings suggest that the Ala-9Val polymorphism in the MnSOD gene is not a significant risk factor for breast cancer in this population.
- Further research may be warranted to explore other genetic or environmental factors influencing breast cancer risk.