The Genetic Association of SEP15 G1125A Polymorphism with breast Cancer

A number of Single Nucleotide Polymorphisms (SNPs) in selenoprotein genes have functional consequences with regard to the expression of the proteins. Sep15 exhibits antioxidant properties and thus may be involved in the process of carcinogenesis. The best-studied polymorphism of this selenoprotein includes G1125A (rs5859) that is located in the 3’UTR in the SEP15. It is associated with G/A transition at position 1125.
To determine the association between SEP15 (G1125A) polymorphism and breast cancer risk.
This control-case study comprised of two groups: 100 breast cancer patients and 120 cancer free controls. DNA was extracted from blood samples and genotyping was carried out by tetra-primer ARMS-PCR. Statistical analysis was performed using the MedCalc program (version 12.1).
The distributions of GG, AG and AA Genotypes among patients were 12%, 67%, 21%, and in the controls were 9.2%, 86.6% and 4.2%, respectively. The genotype frequencies were significantly different between cases and the controls. The individuals carrying the AA genotype had a greater risk for BC compared with GG genotype (OR=3.85; 95%CI, 1.07-13.75; p=0.03).
This study indicates that SEP15 G1125A polymorphism may be associated with BC, and that the AA genotype may be a risk factor for the disease. However, further researches are needed to confirm the results.