PDCD1基因单核酸多态和单核酸类型与患乳腺癌的风险更高有关
Sarah L Moretto1, Glauco A F Vitiello2, Bruna K Banin-Hirata3
1Department of Immunology, Parasitology and General Pathology, Biological Sciences Center, State University of Londrina, Londrina, PR, Brazil.
Clinical and experimental immunology
|November 29, 2025
概括
PDCD1 rs11568821 G > A多态性增加了乳腺癌的风险. 这种遗传变异也与雌激素和孕受体的阳性有关,这表明它在BC易感性和预后方面的作用.
科学领域:
- 免疫遗传学 免疫遗传学
- 在瘤学瘤学.
背景情况:
- 编程细胞死亡蛋白1 (PD-1) 是一个重要的免疫检查点,它的失调,通过PD-L1 / PD-L2等连接体,可以促进瘤生长.
- PDCD1基因编码PD-1,使其遗传变异成为癌症发展的潜在因素.
研究的目的:
- 研究PDCD1基因变异 (rs11568821 G > A和rs41386349 C > T) 与乳腺癌 (BC) 风险之间的关联.
- 为了将这些遗传多态度与BC患者的临床病理参数相关联.
主要方法:
- 病例控制研究涉及从外围血液样本中提取DNA.
- 使用聚合酶链反应 (PCR) 和酶限制进行PDCD1基因型定型,然后进行烯胺凝电泳.
- 统计分析包括赔率比率 (OR) 和相关系数 (τ).
主要成果:
- 携带PDCD1 rs11568821 G > A多态的A基因的携带者表现出明显更高的BC发展风险 (OR = 2.42).
- 这种多态性与阳性雌激素受体 (ER) 和孕激素受体 (PR) 状态相关 (τ = 0.25 和 τ = 0.17,分别).
- 哈普洛型分析显示,AC等位基携带者患BC的风险增加,特别是光线A亚型 (OR = 3.59).
结论:
- PDCD1 rs11568821 G > A多态可能作为BC易感性的潜在标志物.
- 这种遗传变异也可以作为预后标记,特别是在ER+/PR+BC亚型中.
- 鉴于PD-1抑制剂在癌症免疫治疗中的作用,了解这些遗传关联至关重要.
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