基于深度学习建模和单核酸多态性分析的孕前易感性评估
Aida Saadaty1, Sara Parhoudeh1, Khalil Khashei Varnamkhasti2
1Department of Genetics, College of Science, Kazerun Branch, Islamic Azad University, Kazerun 73, Iran.
Biomedicines
|May 27, 2023
概括
通过分析介质素-4和介质素-13通路基因表达和特定基因多态度,提升了早期怀孕前的检测. 这种综合方法为开发孕前的新诊断工具提供了潜力.
科学领域:
- 遗传学 遗传学 是一个
- 免疫学 免疫学 免疫学
- 生殖医学 生殖医学
背景情况:
- 早诊断子宫前仍然是改善妊娠结果的重大挑战.
- 介素-13 (IL-13) 和介素-4 (IL-4) 途径与与妊娠并发症相关的炎症过程有关.
研究的目的:
- 调查IL-13和IL-4通路在早期怀孕前检测中的潜力.
- 分析IL-13基因多态 (rs2069740和rs34255686) 与孕前风险之间的关联.
- 开发一种联合诊断模型,用于早期检测孕前症.
主要方法:
- 利用微阵列数据 (GSE149440) 构建一个表达式矩阵.
- 应用基因组丰富分析 (GSEA) 用于识别IL-13和IL-4通路基因.
- 开发了基于基因表达水平的深度学习模型 (多层感知子,PPI图形卷积神经网络).
- 基因型IL-13多态 (rs2069740,rs34255686) 使用放大阻抗突变系统 (ARMS) 进行PCR.
主要成果:
- IL-4和IL-13通路基因表达水平显著区分了早期孕前与正常怀孕.
- 在孕前病例和对照人群之间观察到IL-13的基因型分布和基频率的显著差异rs34255686和rs2069740.
- 确定了与这些多形态相关的特定风险标志物.
结论:
- IL-13和IL-4通路基因的表达水平具有早期孕前诊断的重大潜力.
- IL-13 基因多态 rs2069740 和 rs34255686 与孕前风险有关.
- 结合基因多态和基因表达数据的综合诊断模型可以开发用于未来的临床应用在产前诊断.
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