基因预测子宫内膜异位症对乳腺癌的因果影响:一项两样本的门德尔随机化研究
Shuixin Yan1,2, Jiadi Li1,2, Jiafeng Chen1,2
1The Affiliated Lihuili Hospital, Ningbo University, Ningbo, Zhejiang, China.
Scientific reports
|October 12, 2023
概括
遗传预测性子宫内膜异位症 (EMS) 与整体和雌激素受体阳性乳腺癌的风险降低有关. 这项门德尔随机化研究没有发现与ER阴性乳腺癌风险的相关性.
科学领域:
- 生殖流行病学 生殖流行病学
- 瘤学 遗传学 遗传学
背景情况:
- 子宫内膜异位症 (EMS) 是一种常见的妇科疾病.
- 观察性研究表明EMS和乳腺癌风险之间存在联系,但因果关系尚不清楚.
研究的目的:
- 使用孟德尔的随机化方法调查遗传预测子宫内膜异位症和乳腺癌风险之间的潜在因果关系.
主要方法:
- 使用孟德尔的随机化 (MR) 设计与乳腺癌协会联盟 (BCAC) 的总结统计数据.
- 包括122,977个病例和105,974个控制.
- 采用逆方差加权,加权中位数和MR-Egger回归来评估因果关系和变性.
主要成果:
- 在基因预测EMS和降低整体乳腺癌风险 (OR 0.95;P=0.02) 之间发现了显著的因果关系.
- 电动肌与雌激素受体 (ER) 阳性乳腺癌的风险较低相关 (OR 0.91;P=0.005).
- 对ER阴性乳腺癌没有观察到因果关系 (OR 1.00;P=0.89). 没有检测到Pleiotropy.
结论:
- 遗传预测的子宫内膜异位症与整体和ER阳性侵袭性乳腺癌的风险降低有关.
- 这些发现支持了先前的观察数据,并突出了潜在的共同病因路径.
- 需要进一步的研究来阐明潜在的生物机制.
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