Doctorado en Genética Humana, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Laboratorio de Inmunología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Int J Mol Sci. 2024 Sep 22;25(18):10172. doi: 10.3390/ijms251810172.
Breast cancer (BC) is the leading cause of death from tumors in women worldwide, influenced by various factors, including genetics. The T allele of the single nucleotide variant (SNV) rs3025039 at position +936 of the gene has been reported to affect the mRNA regulatory mechanisms, potentially altering expression and increasing BC risk. This study aimed to investigate the association between rs3025039 and BC in Mexican women residing in Jalisco, Mexico. The study included 231 women with a confirmed diagnosis of BC and 201 healthy subjects as a reference group (RG). PCR-RFLP was employed for the genotyping of rs3025039, with the visualization of amplified products using polyacrylamide gel electrophoresis. Significant differences were observed in rs3025039 alleles and genotypes between BC cases and the RG ( = 0.0038). The frequency of the T allele and the CT genotype was higher in the BC group compared to the RG, with a significant difference ( = 0.0006). In conclusion, this research suggests that the SNV rs3025039 is associated with a higher risk of BC in Mexican women. These findings enhance our understanding of the genetic underpinnings of BC in this population, offering potential insights for future studies and interventions.
乳腺癌(BC)是全球女性肿瘤死亡的主要原因,受多种因素影响,包括遗传因素。已有报道称,基因位置+936 处的单核苷酸变异(SNV)rs3025039 的 T 等位基因影响 mRNA 调节机制,可能改变 表达并增加 BC 风险。本研究旨在调查墨西哥哈利斯科州居住的墨西哥女性中 rs3025039 与 BC 之间的关联。该研究纳入了 231 名经确诊患有 BC 的女性和 201 名健康对照组(RG)。采用 PCR-RFLP 对 rs3025039 进行基因分型,使用聚丙烯酰胺凝胶电泳可视化扩增产物。BC 病例与 RG 之间 rs3025039 等位基因和基因型存在显著差异( = 0.0038)。与 RG 相比,BC 组的 T 等位基因和 CT 基因型频率更高,差异具有统计学意义( = 0.0006)。综上所述,本研究提示 SNV rs3025039 与墨西哥女性的 BC 风险升高相关。这些发现增强了我们对该人群中 BC 遗传基础的理解,为未来的研究和干预提供了潜在的见解。