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.
journal_name
Bull Exp Biol Medjournal_title
Bulletin of experimental biology and medicineauthors
Degtyareva AO,Leberfarb EY,Efimova EG,Brusentsov II,Usova AV,Lushnikova EL,Merkulova TIdoi
10.1007/s10517-020-04829-2subject
Has Abstractpub_date
2020-05-01 00:00:00pages
81-84issue
1eissn
0007-4888issn
1573-8221pii
10.1007/s10517-020-04829-2journal_volume
169pub_type
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