1. rs2072580TA Polymorphism in the Overlapping Promoter Regions of the SART3 and ISCU Genes Associated with the Risk of Breast Cancer
- Author
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E G Efimova, Elena Yu Leberfarb, A V Usova, E L Lushnikova, Ilya Brusentsov, Arina O. Degtyareva, and Tatyana I. Merkulova
- Subjects
0301 basic medicine ,Adult ,Iron-Sulfur Proteins ,medicine.medical_specialty ,Breast Neoplasms ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,Russia ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Breast cancer ,Antigens, Neoplasm ,Risk Factors ,Internal medicine ,Genotype ,medicine ,SART3 ,Humans ,Genetic Predisposition to Disease ,Promoter Regions, Genetic ,Transcription factor ,Genotyping ,Gene ,Genetic Association Studies ,Aged ,Aged, 80 and over ,biology ,RNA-Binding Proteins ,General Medicine ,Middle Aged ,medicine.disease ,030104 developmental biology ,Endocrinology ,Case-Control Studies ,biology.protein ,Female ,ISCU ,CREB1 ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2019