在患有致病CHEK2变种c.1100delC的女性中,自然更年期的晚年年龄:一个验证研究
Maartje A C Schreurs1, Antoinette Hollestelle1, Muriel A Adank2
1Department of Medical Oncology, Erasmus MC Cancer Center, Rotterdam, The Netherlands.
Journal of medical genetics
|February 14, 2026
概括
患有CHEK2 c.1100delC变异的女性在自然更年期 (ANM) 的晚年期经历1.5-2.2年. 这一发现证实了CHEK2变种的存在.
科学领域:
- 生殖内分泌学和遗传学 生殖内分泌学和遗传学
- 更年期研究研究更年期研究.
- 遗传流行病学遗传流行病学
背景情况:
- 欧洲女性自然更年期 (ANM) 的平均年龄为50-52岁.
- 生殖和生活方式因素影响ANM.
- 之前的一项全基因组关联研究表明,患有CHEK2变异的女性比非携带者晚3.49年体验ANM.
研究的目的:
- 为了验证CHEK2 c.1100delC变种与ANM之间的关联.
- 调查携带CHEK2 c.1100delC变种的家庭中的这种关联.
主要方法:
- 利用了来自荷兰 (Hebon) 遗传性乳腺和卵巢癌研究的数据.
- 包括那些接受了致病变体遗传测试的妇女.
- 通过风险因素和ANM问卷收集数据;使用考克斯回归分析,调整为初潮,平价,吸烟和荷尔蒙避孕药的使用.
主要成果:
- 包括661个CHEK2 c.1100delC异构体,175个非载体亲属和8839个无关非载体.
- 与非载体亲属 (50.3年) 和非相关非载体亲属 (49.6年) 相比,CHEK2 c.1100delC女性的ANM显著晚 (51.8年).
- 考克斯回归表明,与非携带者相比,异构卵细胞具有较晚的ANM (HR 1.58-1.83).
结论:
- CHEK2 c.1100delC变种独立地与ANM的1.5-2.2年延迟有关.
- 这种关联无论ANM的家族遗传性如何,都被观察到.
关键词:
人口遗传学,人口遗传学相关概念视频
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