Research output: Contribution to journal › Article › peer-review
rs2072580T>A Polymorphism in the Overlapping Promoter Regions of the SART3 and ISCU Genes Associated with the Risk of Breast Cancer. / Degtyareva, A. O.; Leberfarb, E. Y.; Efimova, E. G. et al.
In: Bulletin of Experimental Biology and Medicine, Vol. 169, No. 1, 01.05.2020, p. 81-84.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
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
UR - http://www.scopus.com/inward/record.url?scp=85085959385&partnerID=8YFLogxK
U2 - 10.1007/s10517-020-04829-2
DO - 10.1007/s10517-020-04829-2
M3 - Article
C2 - 32495170
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 -
ID: 24517913