卵巢储备和自发流产之间的关联以及它们共同的遗传架构
Yan Yi1,2, Jing Fu1,2, Shi Xie1,2
1Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, China.
Human reproduction (Oxford, England)
|September 15, 2023
概括
卵巢储备减少 (DOR) 和流产具有共同的遗传联系,特别是在免疫路径中. 识别这些共同的遗传风险位点,可以了解潜在的机制和生殖健康的未来治疗目标.
科学领域:
- 生殖内分泌学 生殖内分泌学
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
背景情况:
- 较低的抗穆勒尔激素 (AMH) 水平与流产风险增加有着不一致的联系.
- 卵巢储备减少 (DOR) 和流产可能有共同的潜在原因,而不是直接的因果关系.
- 遗传数据可以探索DOR和流产之间的潜在共享机制.
研究的目的:
- 调查减少的卵巢储备 (DOR) 和自发性流产之间的竞争.
- 通过使用遗传数据,识别潜在的共同遗传机制,这些机制是DOR和流产的基础.
主要方法:
- 对临床试管婴儿数据 (17,786个周期) 的分析,以将卵巢储备标记与流产风险联系起来.
- 利用英国生物库 (UKB) 的数据 (35,316名女性) 来检查流产史和早期更年期之间的联系.
- 提取UKB基因型数据以确定流产和更年期的共同遗传风险位.
主要成果:
- 在IVF数据中,较低的AMH,毛囊数和较高的FSH水平与早期自发流产风险增加有关.
- 在UKB数据中,三次或更多次流产的病史与早期更年期风险增加30%相关.
- 确定了158个流产和更年期的共同遗传风险位点,富含抗原处理/呈现和自身免疫通路.
结论:
- 共同的遗传因素,特别是那些参与免疫反应的遗传因素,可能会导致卵巢储量减少和流产的同时发生.
- 这些发现对试管婴儿的患者咨询和对重复流产的遗传咨询有影响.
- 对共享基因架构的进一步研究可能会揭示生殖健康的新疗法策略.
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