Polymorphic variants of the <i>hOGG1, APEX1, XPD, SOD2</i>, and <i>CAT</i> genes involved in DNA repair processes and antioxidant defense and their association with breast cancer risk

Breast cancer is one of the leading causes of mortality among women. The most frequently encountered tumors are luminal tumors. Associations of polymorphisms in the hOGG1 (rs1052133), APEX1 (rs1130409), XPD (rs13181), SOD2 (rs4880), and CAT (rs1001179) genes were studied in 313 nonsmoking postmenopa...

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Main Authors: А. А. Timofeeva, V. I. Minina, A. V. Torgunakova, О. А. Soboleva, R. А. Тitov, Ya. А. Zakharova, M. L. Bakanova, А. N. Glushkov
Format: Article
Language:English
Published: Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders 2024-07-01
Series:Вавиловский журнал генетики и селекции
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Online Access:https://vavilov.elpub.ru/jour/article/view/4185
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author А. А. Timofeeva
V. I. Minina
A. V. Torgunakova
О. А. Soboleva
R. А. Тitov
Ya. А. Zakharova
M. L. Bakanova
А. N. Glushkov
author_facet А. А. Timofeeva
V. I. Minina
A. V. Torgunakova
О. А. Soboleva
R. А. Тitov
Ya. А. Zakharova
M. L. Bakanova
А. N. Glushkov
author_sort А. А. Timofeeva
collection DOAJ
description Breast cancer is one of the leading causes of mortality among women. The most frequently encountered tumors are luminal tumors. Associations of polymorphisms in the hOGG1 (rs1052133), APEX1 (rs1130409), XPD (rs13181), SOD2 (rs4880), and CAT (rs1001179) genes were studied in 313 nonsmoking postmenopausal patients with luminal B subtype breast cancer. The control group consisted of 233 healthy nonsmoking postmenopausal women. Statistically significant associations of the XPD and APEX1 gene polymorphisms with the risk of developing luminal B Her2- negative subtype of breast cancer were observed in a log-additive inheritance model, while the CAT gene polymorphism showed an association in a dominant inheritance model (OR = 1.41; CI 95 %: 1.08–1.85; Padj.= 0.011; OR = 1.39; CI 95 %: 1.07–1.81; Padj = 0.013 и OR = 1.70; CI 95 %: 1.19–2.43; Padj = 0.004, respectively). In the group of elderly women (aged 60–74 years), an association of the CAT gene polymorphism with the risk of developing luminal B subtype of breast cancer was found in a log-additive inheritance model (OR = 1.87; 95 % CI: 1.22–2.85; Padj = 0.0024). Using MDR analysis, the most optimal statistically significant 3-locus model of gene-gene interactions in the development of luminal B Her2-negative subtype breast cancer was found. MDR analysis also showed a close interaction and mutual enhancement of effects between the APEX1 and SOD2 loci and the independence of the effects of these loci from the CAT locus in the formation of luminal B subtype breast cancer.
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publisher Siberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and Breeders
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spelling doaj-art-36755870491b41019d7148b928e333892025-02-01T09:58:13ZengSiberian Branch of the Russian Academy of Sciences, Federal Research Center Institute of Cytology and Genetics, The Vavilov Society of Geneticists and BreedersВавиловский журнал генетики и селекции2500-32592024-07-0128442443210.18699/vjgb-24-481477Polymorphic variants of the <i>hOGG1, APEX1, XPD, SOD2</i>, and <i>CAT</i> genes involved in DNA repair processes and antioxidant defense and their association with breast cancer riskА. А. Timofeeva0V. I. Minina1A. V. Torgunakova2О. А. Soboleva3R. А. Тitov4Ya. А. Zakharova5M. L. Bakanova6А. N. Glushkov7Federal Research Center of Coal and Coal Chemistry of the Siberian Branch of the Russian Academy of SciencesFederal Research Center of Coal and Coal Chemistry of the Siberian Branch of the Russian Academy of Sciences ; Kemerovo State UniversityFederal Research Center of Coal and Coal Chemistry of the Siberian Branch of the Russian Academy of Sciences ; Kemerovo State UniversityFederal Research Center of Coal and Coal Chemistry of the Siberian Branch of the Russian Academy of SciencesFederal Research Center of Coal and Coal Chemistry of the Siberian Branch of the Russian Academy of Sciences ; Kemerovo State UniversityFederal Research Center of Coal and Coal Chemistry of the Siberian Branch of the Russian Academy of Sciences ; Kemerovo State UniversityFederal Research Center of Coal and Coal Chemistry of the Siberian Branch of the Russian Academy of SciencesFederal Research Center of Coal and Coal Chemistry of the Siberian Branch of the Russian Academy of SciencesBreast cancer is one of the leading causes of mortality among women. The most frequently encountered tumors are luminal tumors. Associations of polymorphisms in the hOGG1 (rs1052133), APEX1 (rs1130409), XPD (rs13181), SOD2 (rs4880), and CAT (rs1001179) genes were studied in 313 nonsmoking postmenopausal patients with luminal B subtype breast cancer. The control group consisted of 233 healthy nonsmoking postmenopausal women. Statistically significant associations of the XPD and APEX1 gene polymorphisms with the risk of developing luminal B Her2- negative subtype of breast cancer were observed in a log-additive inheritance model, while the CAT gene polymorphism showed an association in a dominant inheritance model (OR = 1.41; CI 95 %: 1.08–1.85; Padj.= 0.011; OR = 1.39; CI 95 %: 1.07–1.81; Padj = 0.013 и OR = 1.70; CI 95 %: 1.19–2.43; Padj = 0.004, respectively). In the group of elderly women (aged 60–74 years), an association of the CAT gene polymorphism with the risk of developing luminal B subtype of breast cancer was found in a log-additive inheritance model (OR = 1.87; 95 % CI: 1.22–2.85; Padj = 0.0024). Using MDR analysis, the most optimal statistically significant 3-locus model of gene-gene interactions in the development of luminal B Her2-negative subtype breast cancer was found. MDR analysis also showed a close interaction and mutual enhancement of effects between the APEX1 and SOD2 loci and the independence of the effects of these loci from the CAT locus in the formation of luminal B subtype breast cancer.https://vavilov.elpub.ru/jour/article/view/4185breast cancerluminal b subtypehogg1apex1xpdsod2cat.
spellingShingle А. А. Timofeeva
V. I. Minina
A. V. Torgunakova
О. А. Soboleva
R. А. Тitov
Ya. А. Zakharova
M. L. Bakanova
А. N. Glushkov
Polymorphic variants of the <i>hOGG1, APEX1, XPD, SOD2</i>, and <i>CAT</i> genes involved in DNA repair processes and antioxidant defense and their association with breast cancer risk
Вавиловский журнал генетики и селекции
breast cancer
luminal b subtype
hogg1
apex1
xpd
sod2
cat.
title Polymorphic variants of the <i>hOGG1, APEX1, XPD, SOD2</i>, and <i>CAT</i> genes involved in DNA repair processes and antioxidant defense and their association with breast cancer risk
title_full Polymorphic variants of the <i>hOGG1, APEX1, XPD, SOD2</i>, and <i>CAT</i> genes involved in DNA repair processes and antioxidant defense and their association with breast cancer risk
title_fullStr Polymorphic variants of the <i>hOGG1, APEX1, XPD, SOD2</i>, and <i>CAT</i> genes involved in DNA repair processes and antioxidant defense and their association with breast cancer risk
title_full_unstemmed Polymorphic variants of the <i>hOGG1, APEX1, XPD, SOD2</i>, and <i>CAT</i> genes involved in DNA repair processes and antioxidant defense and their association with breast cancer risk
title_short Polymorphic variants of the <i>hOGG1, APEX1, XPD, SOD2</i>, and <i>CAT</i> genes involved in DNA repair processes and antioxidant defense and their association with breast cancer risk
title_sort polymorphic variants of the i hogg1 apex1 xpd sod2 i and i cat i genes involved in dna repair processes and antioxidant defense and their association with breast cancer risk
topic breast cancer
luminal b subtype
hogg1
apex1
xpd
sod2
cat.
url https://vavilov.elpub.ru/jour/article/view/4185
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