维生素D受体基因与女性不孕症的遗传关联
Mussarat Ashraf1, Haq Nawaz Khan1, Rabab Ibrahim1
1Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan.
Nucleosides, nucleotides & nucleic acids
|July 27, 2023
概括
维生素D受体 (VDR) 基因变异与女性不孕症有关. 福克尔多态性增加了不孕症风险,而塔克尔和阿帕尔基因型在巴基斯坦妇女中提供了保护.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 内分泌学 在内分泌学.
背景情况:
- 不孕症影响全球15%,巴基斯坦22%,女性不孕症与遗传和环境因素有关.
- 维生素D缺乏很普遍,特别是在亚洲,维生素D受体 (VDR) 在女性生殖器官中至关重要.
研究的目的:
- 调查维生素D受体 (VDR) 基因多态和巴基斯坦女性不孕症之间的关联.
主要方法:
- 在不孕女性的血液样本上使用PCR基RFLP试验对四种VDR突变 (FokI,TaqI,ApaI,BSMI) 进行基因定型.
- 统计分析,包括风险评估的多名词回归.
主要成果:
- FokI,TaqI和ApaL多态性与不孕症有显著的相关性 (p <0.05).
- 在FokI异合体基因型中,不孕症的风险增加了2.5倍 (OR=2.5,p=0.001).
- TaqI和ApaL异合体基因型显示出保护作用,分别减少了58% (OR=0.42) 和52% (OR=0.48) 的不孕症风险. BsmI显示没有显著的关联.
结论:
- VDR基因多态,特别是FokI,TaqI和ApaI,与巴基斯坦人口中的女性不孕症有关.
- FokI SNP显著增加了不孕症风险,而TaqI和Apal基因型似乎具有保护作用.
- 在这个群体中,BSMI多态性不会影响不孕症风险.
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