rs2072580TA 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, rsl154258, 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...

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Bibliographic Details
Published in:	Bulletin of experimental biology and medicine Vol. 169; no. 1; p. 81
Main Authors:	Degtyareva, A.O, Leberfarb, E.Yu, Efimova, E.G, Brusentsov, I.I, Usova, A.V, Lushnikova, E.L, Merkulova, T.I
Format:	Journal Article
Language:	English
Published:	Springer 01-05-2020
Subjects:	Breast cancer Cancer Development and progression DNA binding proteins Genes Genetic aspects Health aspects Risk factors Single nucleotide polymorphisms
Online Access:	Get full text
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Summary:	We analyzed association of potentially regulatory polymorphisms (rs590352, rsl154258, 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 (p=0.001) for the AT genotype. Under a recessive model of inheritance (TT vs AA+TT), the risk of disease was 10-fold higher (p=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. Key Words: regulatory single-nucleotide polymorphisms; genotyping; breast cancer; SART3; ISCU
ISSN:	0007-4888
DOI:	10.1007/s10517-020-04829-2