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

A. O. Degtyareva, E. Y. Leberfarb, E. G. Efimova, I. I. Brusentsov, A. V. Usova, E. L. Lushnikova, T. I. Merkulova

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)81-84
Number of pages4
JournalBulletin of Experimental Biology and Medicine
Volume169
Issue number1
DOIs
Publication statusPublished - 1 May 2020

Keywords

  • breast cancer
  • genotyping
  • ISCU
  • regulatory single-nucleotide polymorphisms
  • SART3

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