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

doi:10.1007/s10517-020-04829-2

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

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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 language	English
Pages (from-to)	81-84
Number of pages	4
Journal	Bulletin of Experimental Biology and Medicine
Volume	169
Issue number	1
DOIs	https://doi.org/10.1007/s10517-020-04829-2
Publication status	Published - 1 May 2020

Keywords

breast cancer
genotyping
ISCU
regulatory single-nucleotide polymorphisms
SART3

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10.1007/s10517-020-04829-2

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

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.",

keywords = "breast cancer, genotyping, ISCU, regulatory single-nucleotide polymorphisms, SART3",

author = "Degtyareva, {A. O.} and Leberfarb, {E. Y.} and Efimova, {E. G.} and Brusentsov, {I. I.} and Usova, {A. V.} and Lushnikova, {E. L.} and Merkulova, {T. I.}",

year = "2020",

month = may,

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doi = "10.1007/s10517-020-04829-2",

language = "English",

volume = "169",

pages = "81--84",

journal = "Bulletin of Experimental Biology and Medicine",

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T1 - rs2072580T>A Polymorphism in the Overlapping Promoter Regions of the SART3 and ISCU Genes Associated with the Risk of Breast Cancer

AU - Degtyareva, A. O.

AU - Leberfarb, E. Y.

AU - Efimova, E. G.

AU - Brusentsov, I. I.

AU - Usova, A. V.

AU - Lushnikova, E. L.

AU - Merkulova, T. I.

PY - 2020/5/1

Y1 - 2020/5/1

N2 - 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.

AB - 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.

KW - breast cancer

KW - genotyping

KW - ISCU

KW - regulatory single-nucleotide polymorphisms

KW - SART3

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U2 - 10.1007/s10517-020-04829-2

DO - 10.1007/s10517-020-04829-2

M3 - Article

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AN - SCOPUS:85085959385

VL - 169

SP - 81

EP - 84

JO - Bulletin of Experimental Biology and Medicine

JF - Bulletin of Experimental Biology and Medicine

SN - 0007-4888

IS - 1

ER -

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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