rs2072580T>A Polymorphism in the Overlapping Promoter Regions of the SART3 and ISCU Genes Associated with the Risk of Breast Cancer

We analyzed association of potentially regulatory polymorphisms ( rs590352 , rs11542583 , rs3829202 , rs207258 , and rs4796672 ) with breast cancer. A significant association was found between this disease and rs2072580T>A ( p =0.001) located in the overlapping promoter regions of the SART3 and ISCU genes. In women with AA and AT genotypes, the risk of breast cancer is higher by 6.7 times ( p =0.001) and 12 times ( p =0.001), respectively, in comparison with TT genotype. Under a codominant model of inheritance ( AT vs AA + TT ), the risk of breast cancer was increased by 4.2 times ( р =0.001) for the AT genotype. Under a recessive model of inheritance ( TT vs AA + TT ), the risk of disease was 10-fold higher ( р =0.001) for the TT genotype. It has been demonstrated that the T > A substitution affects the binding properties of transcription factors CREB1 and REST .