在伊朗人口中,AKT1多态和对乳腺癌的易感性之间存在关联
Batool Torki Baghbadorani1, Zahra Zamanzadeh1, Morteza Abkar1
1Department of Genetics, Faculty of Biological Sciences and Technology, Shahid Ashrafi Esfahani University, Isfahan, Iran.
Breast disease
|July 30, 2025
概括
AKT1基因中的单核酸多态 (SNP),特别是rs1130233,与乳腺癌 (BC) 的风险增加有关. rs1130233的T等位基因和CTC单位基因表明对BC的更高遗传敏感性.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- Akt1是PI3K/Akt路径的关键调节者,影响癌细胞生长,存活和入侵.
- AKT1基因中的单核酸多态 (SNPs) 与各种癌症的发病有关.
研究的目的:
- 研究AKT1基因多态 (rs1130214,rs1130233和rs2494732) 与患乳腺癌 (BC) 的风险之间的关联.
主要方法:
- 在100名BC患者和100名健康对照中使用PCR-RFLP和ARMS-PCR对AKT1SNP进行基因定型.
- 后勤回归分析用于根据各种遗传模型确定基因型和等位基因关联.
- 进行了哈普洛型和基因型组合分析,以及对rs1130233.3的RNA二次结构预测.
主要成果:
- 在一个衰退模型下,rs1130233 SNP显示出与BC倾向的显著关联 (p <0.05).
- rs1130233 T基因组与BC的风险增加有关 (OR: 1.877;95% CI: 1.242-2.837;p = 0.003). 这一基因组与BC的风险增加有关.
- 特定的组合基因型 (AA/TC,CC/TC) 和CTC亚型与降低和增加BC风险有关.
结论:
- AKT1 rs1130233 SNP与乳腺癌的风险增加有显著关联.
- CTC单双型可以作为标记物来识别具有BC.遗传敏感性的个体.
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