探索乳腺癌和脑膜瘤之间的遗传相关性和因果关系,使用双向孟德尔随机化
Lu Ding1, Bo Chen2, Zhou Zhou2
1Department of General Practices, The Affiliated People's Hospital of Jiangsu University, Zhenjiang, 212000, People's Republic of China.
Scientific reports
|February 5, 2025
概括
乳腺癌 (BC) 可能因果性地增加内脑膜瘤的风险,特别是雌激素受体阳性BC. 共同的遗传因素,包括特定的基因和途径,将这些疾病联系在一起,这表明它们在发展中可能发挥作用.
科学领域:
- 神经瘤学神经瘤学
- 癌症遗传学 癌症遗传学
- 流行病学 流行病学
背景情况:
- 以前的研究表明,诊断为脑膜瘤的妇女患乳腺癌 (BC) 的发病率较高.
- 这两种疾病之间的潜在因果关系需要在遗传层面进行调查.
研究的目的:
- 使用遗传数据调查乳腺癌 (BC) 和脑膜瘤之间的潜在因果关系.
- 探索BC和内/脊柱脑膜瘤之间的遗传相关性和共同遗传因素.
主要方法:
- 利用了BC和脑膜瘤的全基因组关联研究 (GWAS) 数据.
- 采用孟德尔随机化 (MR) 分析与反变量加权 (IVW) 和灵敏度分析.
- 使用链接不平衡得分回归 (LDSC) 评估遗传相关性,并通过FUMA识别了共享的基因.
主要成果:
- 基因预测的整体BC和雌激素受体阳性 (ER+) BC显示了与内脑膜瘤的潜在因果关系 (ORs > 1,P < 0.05).
- 在整体BC,ER+BC和内脑膜瘤 (rg > 0,P < 0.05) 之间观察到温和的正基因相关性.
- 确定了共享风险基因 (PITPNB,TTC28,CHEK2) 和涉及的ER信号通路和DNA损伤调节.
结论:
- 乳腺癌,特别是ER+BC,可能是发展内脑膜瘤的危险因素.
- 遗传因素,包括与ER相关的途径和DNA损伤调节,可能有助于BC和内脑膜瘤的共同病原体.
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