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
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
Affiliations
Martha Patricia Gallegos-Arreola
División 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, Mexico
Asbiel Felipe Garibaldi-Ríos
División 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, Mexico
María Teresa Magaña-Torres
División 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, Mexico
Luis E. Figuera
División 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, Mexico
Belinda Claudia Gómez-Meda
Instituto 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, Mexico
Guillermo Moisés Zúñiga-González
División 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, Mexico
Ana María Puebla-Pérez
Laboratorio de Inmunofarmacología, Centro Universitario de Ciencias Exactas e Ingenierias, Universidad de Guadalajara, Guadalajara 44430, Jalisco, Mexico
Irving Alejandro Carrillo-Dávila
División 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, Mexico
Mónica Alejandra Rosales-Reynoso
División 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, Mexico
Ingrid Patricia Dávalos-Rodríguez
División 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, Mexico
Jorge I. Delgado-Saucedo
Laboratorio de Inmunofarmacología, Centro Universitario de Ciencias Exactas e Ingenierias, Universidad de Guadalajara, Guadalajara 44430, Jalisco, Mexico
Marco Uriel López-Monroy
Maestría en Ciencias en Química, Centro Universitario de Ciencias Exactas e Ingenierías, Departamento de Química, Universidad de Guadalajara, Guadalajara 44430, Jalisco, Mexico
Background/Objectives: This study investigated the association between the rs13306703 and rs8192288 variants of the superoxide dismutase 3 (SOD3) gene and breast cancer (BC) in the Mexican population, conducting both genetic and in silico analyses. Methods: 357 healthy women and 386 BC patients were studied using TaqMan assays, qPCR, and RFLP-PCR. Results: The TT genotype and a recessive pattern of these variants were risk factors for BC (p TT 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 GT 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 TT genotype combined with DM was identified as a BC risk factor (p TT haplotype was also found to be a risk factor for BC. In silico analysis suggested that these variants might influence SOD3 regulation by affecting transcription factors and active enhancer sites. Conclusions: The rs13306703 and rs8192288 variants of the SOD3 gene were associated with an increased risk of BC and may alter SOD3 regulation through effects on transcription factors, active enhancers, and transcription start sites, with modified motifs in breast epithelium cells.
