Association Between the rs13306703 and rs8192288 Variants of the <i>SOD3</i> Gene and Breast Cancer and an In Silico Analysis of the Variants’ Impact
<b>Background/Objectives:</b> This study investigated the association between the rs13306703 and rs8192288 variants of the superoxide dismutase 3 (<i>SOD3</i>) gene and breast cancer (BC) in the Mexican population, conducting both genetic and in silico analyses. <b>Meth...
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2024-11-01
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| author | Martha Patricia Gallegos-Arreola Asbiel Felipe Garibaldi-Ríos María Teresa Magaña-Torres Luis E. Figuera Belinda Claudia Gómez-Meda Guillermo Moisés Zúñiga-González Ana María Puebla-Pérez Irving Alejandro Carrillo-Dávila Mónica Alejandra Rosales-Reynoso Ingrid Patricia Dávalos-Rodríguez Jorge I. Delgado-Saucedo Marco Uriel López-Monroy |
| author_facet | Martha Patricia Gallegos-Arreola Asbiel Felipe Garibaldi-Ríos María Teresa Magaña-Torres Luis E. Figuera Belinda Claudia Gómez-Meda Guillermo Moisés Zúñiga-González Ana María Puebla-Pérez Irving Alejandro Carrillo-Dávila Mónica Alejandra Rosales-Reynoso Ingrid Patricia Dávalos-Rodríguez Jorge I. Delgado-Saucedo Marco Uriel López-Monroy |
| author_sort | Martha Patricia Gallegos-Arreola |
| collection | DOAJ |
| description | <b>Background/Objectives:</b> This study investigated the association between the rs13306703 and rs8192288 variants of the superoxide dismutase 3 (<i>SOD3</i>) gene and breast cancer (BC) in the Mexican population, conducting both genetic and in silico analyses. <b>Methods:</b> 357 healthy women and 386 BC patients were studied using TaqMan assays, qPCR, and RFLP-PCR. <b>Results:</b> The <i>TT</i> genotype and a recessive pattern of these variants were risk factors for BC (<i>p</i> < 0.05). Specifically, the <i>TT</i> genotype of rs13306703 was associated with metastatic lymph nodes, tumor progression (III–IV), luminal A, nonresponse to chemotherapy, and ki-67 ≥ 20% with diabetes mellitus (DM). Meanwhile, the <i>GT</i> genotype of rs8192288 was associated with menopause, luminal A, tumor progression (III–IV), ki-67 ≥ 20%, and a positive estrogen receptor with nonresponse to chemotherapy. Additionally, the <i>TT</i> genotype combined with DM was identified as a BC risk factor (<i>p</i> < 0.05). The <i>TT</i> haplotype was also found to be a risk factor for BC. In silico analysis suggested that these variants might influence <i>SOD3</i> regulation by affecting transcription factors and active enhancer sites. <b>Conclusions:</b> The rs13306703 and rs8192288 variants of the <i>SOD3</i> gene were associated with an increased risk of BC and may alter <i>SOD3</i> regulation through effects on transcription factors, active enhancers, and transcription start sites, with modified motifs in breast epithelium cells. |
| format | Article |
| id | doaj-art-aba55136705540a4866a65aab1be650c |
| institution | Kabale University |
| issn | 2079-9721 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | MDPI AG |
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| series | Diseases |
| spelling | doaj-art-aba55136705540a4866a65aab1be650c2024-11-26T18:00:10ZengMDPI AGDiseases2079-97212024-11-01121127610.3390/diseases12110276Association Between the rs13306703 and rs8192288 Variants of the <i>SOD3</i> Gene and Breast Cancer and an In Silico Analysis of the Variants’ ImpactMartha Patricia Gallegos-Arreola0Asbiel Felipe Garibaldi-Ríos1María Teresa Magaña-Torres2Luis E. Figuera3Belinda Claudia Gómez-Meda4Guillermo Moisés Zúñiga-González5Ana María Puebla-Pérez6Irving Alejandro Carrillo-Dávila7Mónica Alejandra Rosales-Reynoso8Ingrid Patricia Dávalos-Rodríguez9Jorge I. Delgado-Saucedo10Marco Uriel López-Monroy11División de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Col. Independencia, Guadalajara 44340, Jalisco, MexicoDivisión de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Col. Independencia, Guadalajara 44340, Jalisco, MexicoDivisión de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Col. Independencia, Guadalajara 44340, Jalisco, MexicoDivisión de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Col. Independencia, Guadalajara 44340, Jalisco, MexicoInstituto de Genética Humana “Dr. Enrique Corona Rivera”, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, MexicoDivisión de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Col. Independencia, Guadalajara 44340, Jalisco, MexicoLaboratorio de Inmunofarmacología, Centro Universitario de Ciencias Exactas e Ingenierias, Universidad de Guadalajara, Guadalajara 44430, Jalisco, MexicoDivisión de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Col. Independencia, Guadalajara 44340, Jalisco, MexicoDivisión de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Col. Independencia, Guadalajara 44340, Jalisco, MexicoDivisión de Genética, Centro de Investigación Biomédica de Occidente, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Col. Independencia, Guadalajara 44340, Jalisco, MexicoLaboratorio de Inmunofarmacología, Centro Universitario de Ciencias Exactas e Ingenierias, Universidad de Guadalajara, Guadalajara 44430, Jalisco, MexicoMaestría en Ciencias en Química, Centro Universitario de Ciencias Exactas e Ingenierías, Departamento de Química, Universidad de Guadalajara, Guadalajara 44430, Jalisco, Mexico<b>Background/Objectives:</b> This study investigated the association between the rs13306703 and rs8192288 variants of the superoxide dismutase 3 (<i>SOD3</i>) gene and breast cancer (BC) in the Mexican population, conducting both genetic and in silico analyses. <b>Methods:</b> 357 healthy women and 386 BC patients were studied using TaqMan assays, qPCR, and RFLP-PCR. <b>Results:</b> The <i>TT</i> genotype and a recessive pattern of these variants were risk factors for BC (<i>p</i> < 0.05). Specifically, the <i>TT</i> genotype of rs13306703 was associated with metastatic lymph nodes, tumor progression (III–IV), luminal A, nonresponse to chemotherapy, and ki-67 ≥ 20% with diabetes mellitus (DM). Meanwhile, the <i>GT</i> genotype of rs8192288 was associated with menopause, luminal A, tumor progression (III–IV), ki-67 ≥ 20%, and a positive estrogen receptor with nonresponse to chemotherapy. Additionally, the <i>TT</i> genotype combined with DM was identified as a BC risk factor (<i>p</i> < 0.05). The <i>TT</i> haplotype was also found to be a risk factor for BC. In silico analysis suggested that these variants might influence <i>SOD3</i> regulation by affecting transcription factors and active enhancer sites. <b>Conclusions:</b> The rs13306703 and rs8192288 variants of the <i>SOD3</i> gene were associated with an increased risk of BC and may alter <i>SOD3</i> regulation through effects on transcription factors, active enhancers, and transcription start sites, with modified motifs in breast epithelium cells.https://www.mdpi.com/2079-9721/12/11/276breast cancer<i>SOD3</i> genegenetic variantscancer geneticsin silico analysis |
| spellingShingle | Martha Patricia Gallegos-Arreola Asbiel Felipe Garibaldi-Ríos María Teresa Magaña-Torres Luis E. Figuera Belinda Claudia Gómez-Meda Guillermo Moisés Zúñiga-González Ana María Puebla-Pérez Irving Alejandro Carrillo-Dávila Mónica Alejandra Rosales-Reynoso Ingrid Patricia Dávalos-Rodríguez Jorge I. Delgado-Saucedo Marco Uriel López-Monroy Association Between the rs13306703 and rs8192288 Variants of the <i>SOD3</i> Gene and Breast Cancer and an In Silico Analysis of the Variants’ Impact Diseases breast cancer <i>SOD3</i> gene genetic variants cancer genetics in silico analysis |
| title | Association Between the rs13306703 and rs8192288 Variants of the <i>SOD3</i> Gene and Breast Cancer and an In Silico Analysis of the Variants’ Impact |
| title_full | Association Between the rs13306703 and rs8192288 Variants of the <i>SOD3</i> Gene and Breast Cancer and an In Silico Analysis of the Variants’ Impact |
| title_fullStr | Association Between the rs13306703 and rs8192288 Variants of the <i>SOD3</i> Gene and Breast Cancer and an In Silico Analysis of the Variants’ Impact |
| title_full_unstemmed | Association Between the rs13306703 and rs8192288 Variants of the <i>SOD3</i> Gene and Breast Cancer and an In Silico Analysis of the Variants’ Impact |
| title_short | Association Between the rs13306703 and rs8192288 Variants of the <i>SOD3</i> Gene and Breast Cancer and an In Silico Analysis of the Variants’ Impact |
| title_sort | association between the rs13306703 and rs8192288 variants of the i sod3 i gene and breast cancer and an in silico analysis of the variants impact |
| topic | breast cancer <i>SOD3</i> gene genetic variants cancer genetics in silico analysis |
| url | https://www.mdpi.com/2079-9721/12/11/276 |
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