黑素受体1B和皮质类固醇受体多态性在不孕妇女与植入失败和流产
Ralitsa Robeva1, Elena Marinova2, Silvia Andonova3
1Department of Endocrinology, Medical Faculty, Medical University-Sofia, 1000 Sofia, Bulgaria.
Frontiers in bioscience (Landmark edition)
|July 3, 2023
概括
黑色素和皮质醇受体基因变异可能会影响生育结果. 特定的MTNR1B和GCCR多态性与不孕妇女的反复植入失败和流产有关.
科学领域:
- 生殖内分泌学 生殖内分泌学
- 人类遗传学 人类遗传学
- 不孕症研究 不孕症研究
背景情况:
- 辅助生殖技术可以提高生育能力,但反复的植入失败 (RIF) 和流产 (RM) 仍然是挑战.
- 黑色素和皮质醇信号通路对于人类的繁殖至关重要.
- 受体依赖的信号缺陷可能会影响荷尔蒙对生育能力的影响.
研究的目的:
- 为了研究特定的黑激素和皮质醇受体基因多态和不孕症之间的关联.
- 探索这些多态性在经历RIF和RM的女性中的作用.
主要方法:
- 对111名不育妇女和106名对照人群进行MTNR1B rs1562444,MTNR1B rs10830962,GCCR rs41423247和GCCR ER22/23EK变种的基因定型.
- 在不孕症患者和对照组之间分析等位基因和基因型分布.
主要成果:
- 在不孕女性和对照之间,总体的等位基因/基因型分布没有显著差异.
- 在有RIF病史的女性中,MTNR1B rs1562444的G基因基因型更为普遍 (19.3%对3.6%,p=0.004).
- 在 ≥3次植入尝试失败 (12.5%对2.4%,p=0.025) 的患者中,ER22/23EK变异小等位基因更为频繁.
结论:
- MTNR1B多态可能会影响胚胎植入和早期怀孕流产.
- GCCR ER22/23EK变体可能与RIF相关,可能识别皮质类固醇治疗的候选人.
- 需要进一步的研究来评估这些多形态对妊娠后期并发症的影响.
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