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

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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.

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Authors and Affiliations

  1. Federal Research Center Institute of Cytology and Genetics, Siberian Division of Russian Academy of Sciences, Novosibirsk, Russia

    A. O. Degtyareva, E. Y. Leberfarb, I. I. Brusentsov & T. I. Merkulova

  2. Novosibirsk State Medical University, Ministry of Health of the Russian Federation, Novosibirsk, Russia

    E. Y. Leberfarb, E. G. Efimova & A. V. Usova

  3. Novosibirsk National Research State University, Novosibirsk, Russia

    T. I. Merkulova

  4. Institute for Molecular Pathology and Pathomorphology, Federal Research Center for Fundamental and Translational Medicine, Novosibirsk, Russia

    E. L. Lushnikova

Authors
  1. A. O. Degtyareva
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  2. E. Y. Leberfarb
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  3. E. G. Efimova
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  4. I. I. Brusentsov
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  5. A. V. Usova
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  6. E. L. Lushnikova
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  7. T. I. Merkulova
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Corresponding author

Correspondence to A. O. Degtyareva.

Additional information

Translated from Byulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 169, No. 1, pp. 88-91, January, 2020

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Degtyareva, A.O., Leberfarb, E.Y., Efimova, E.G. et al. rs2072580T>A Polymorphism in the Overlapping Promoter Regions of the SART3 and ISCU Genes Associated with the Risk of Breast Cancer. Bull Exp Biol Med 169, 81–84 (2020). https://doi.org/10.1007/s10517-020-04829-2

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  • DOI: https://doi.org/10.1007/s10517-020-04829-2

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