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相关概念视频

Epigenetic Regulation01:37

Epigenetic Regulation

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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
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Epigenetic Regulation01:46

Epigenetic Regulation

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Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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相关实验视频

Updated: Jan 17, 2026

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
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使用全表观基因组甲基化数据估计种群结构.

Ziqing Wang1,2, Kent D Taylor3, Jerome I Rotter3

  • 1CardioVascular Institute, Beth Israel Deaconess Medical Center, Boston, MA, USA.

medRxiv : the preprint server for health sciences
|September 15, 2025
PubMed
概括
此摘要是机器生成的。

基于甲基化的种群评分 (MPSs) 准确地预测遗传主要成分 (GPCs),为全表观基因组关联研究 (EWAS) 提供了有价值的工具,当遗传数据不可用时. 这些得分有助于解释遗传分析中的人口结构.

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科学领域:

  • 遗传学 是一个遗传学.
  • 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
  • 生物信息学是一种生物信息学.

背景情况:

  • 在全表观基因组关联研究 (EWAS) 中的人口分层可能导致结果膨胀.
  • 准确估计人口结构对于可靠的EWAS调查结果至关重要.

研究的目的:

  • 开发和验证能够预测遗传主要成分 (GPCs) 的甲基化种群评分 (MPSs).
  • 评估MPS在解决EWAS中人口分层的有用性.

主要方法:

  • 利用了来自五个群体 (MESA,CARDIA,JHS,ARIC,HCHS/SOL) 的多民族甲基化数据.
  • 采用特征选择和两阶段加权最小方程拉索回归来确定预测GPC的CpG站点.
  • 调整了包括年龄,性别,吸烟,饮酒,BMI和细胞类型比例在内的共变量.

主要成果:

  • 开发的MPS与相应的GPC有很高的相关性 (例如,MPS1/GPC1的R2=0.99).
  • MPS有效地区分了自我报告的种族/种族群体,表现优于以前发表的方法.
  • 在缓解EWAS的通货膨胀方面,MPS表现与GPC相似.

结论:

  • MPS提供了可靠的估计人口结构,作为一个有价值的补充GPCs,特别是当遗传数据缺席时.
  • 这种带有共变量调整的监督学习方法比无监督方法更有效地捕捉了不同种群的遗传结构.
  • 对GPCs的推导权重可以用于在其他独立研究中生成MPS.