微量营养素摄入量和与早产卵巢缺陷相关的遗传变异;MASHAD队列研究
Mohammad Reza Mirinezhad1, Maliheh Aghsizadeh2,3, Hamideh Ghazizadeh2,3
1Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
BMC women's health
|February 4, 2024
概括
过早卵巢衰竭 (POI) 与影响血清铜水平的遗传变异有关. 特定的基因型rs4806660和rs244715独立地与POI女性的铜度有关.
科学领域:
- 内分泌学和生殖医学 繁殖医学
- 人类遗传学 人类遗传学
- 营养生物化学 营养生物化学
背景情况:
- 过早卵巢衰竭 (POI),定义为40岁前更年期,在全球范围内,伊朗女性的患病率是伊朗女性的两倍.
- POI与心血管/脑血管疾病和整体死亡率的风险增加有关.
- 遗传因素和微量营养素含量,包括维生素D,都与POI的发展有关.
研究的目的:
- 为了研究与早产卵巢缺陷 (POI) 相关的特定基因型和关键微量营养素的血清水平之间的关联.
- 探索影响POI妇女微量营养素状况的潜在遗传标记.
主要方法:
- 在MASHAD研究中招募了117名POI女性和183名对照女性.
- 使用ASO-PCR或Tetra ARMS-PCR对8个POI相关单核酸多态 (SNP) 的基因型定型.
- 使用标准实验室方法测量血清矿物质和维生素D度.
主要成果:
- 根据基因型rs244715,rs16991615和rs4806660.在POI的女性中观察到血清铜,和水平的显著差异.
- 在对照组中,血清铜度在rs4806660,rs7246479,rs1046089和rs2303369的基因型之间有显著差异.
- 具有TC基因型 (rs4806660) 的POI女性血清铜含量低的风险降低,而具有GG基因型 (rs244715) 的POI女性血清铜含量高的风险增加了六倍.
结论:
- rs4806660的C等位基因和rs244715的G等位基因独立地与早产卵巢缺陷 (POI) 的妇女的血清铜水平相关.
- 需要进一步的研究来阐明血清铜,其他微量营养素和POI相关的多态性之间的关系.
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