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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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相关实验视频

Updated: Jun 28, 2026

Changes in Mammary Gland Morphology and Breast Cancer Risk in Rats
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细胞类型感知转录组全范围的关联研究,对乳房图密度表型的研究.

Adriana Sistig1, Joseph H Rothstein2,3,4, Sinan Zhu5

  • 1Department of Artificial Intelligence and Human Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

medRxiv : the preprint server for health sciences
|December 8, 2025
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概括

这项研究使用了细胞类型感知转录基因组广泛关联研究 (TWAS) 来识别与乳腺扫描密度 (MD) 和乳腺癌风险相关的新型基因. 这种新方法发现比标准TWAS更多的基因,包括THBS2-AS1,与乳腺癌风险增加有关.

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科学领域:

  • 遗传学 遗传学是一种遗传学.
  • 基因组学就是基因组学.
  • 乳腺癌研究研究 乳腺癌研究

背景情况:

  • 乳腺扫描密度 (MD) 是高度遗传的,并且是一个强大的乳腺癌风险因素.
  • 全基因组关联研究 (GWAS) 已经确定了MD的遗传变异,但解释了有限的遗传性.
  • 全转录组关联研究 (TWAS) 可以通过基因调控基因表达 (GReX) 识别与MD相关的基因,但批量组织分析可以掩盖细胞类型特异性的影响.

研究的目的:

  • 使用标准和新型细胞类型意识框架进行MD表型的TWAS.
  • 为了确定与MD和乳腺癌风险相关的新基因.
  • 提高对MD的遗传结构及其与乳腺癌的关系的理解.

主要方法:

  • 分析了24158名欧洲血统女性的研究人口.
  • 测量了乳房密度表型 (密集面积,不密集面积,百分比密度).
  • 使用标准TWAS和细胞类型感知TWAS (MiXcan2) 来评估GReX与MD表型的关联.

主要成果:

  • 总共有20个基因在16个位点与MD表型有显著的关联.
  • 在六个位置确定了六个新基因,包括THBS2-AS1.
  • THBS2-AS1与不密集区域的减少,百分比密度的增加和乳腺癌风险的增加有关.

结论:

  • 细胞类型意识的TWAS发现了MD和乳腺癌风险的新基因.
  • 该研究强调了在复杂特征的遗传分析中考虑细胞类型异质性的重要性.
  • 这种方法提供了关于密集与非密集乳腺组织和乳腺癌易感性的生物学基础的见解.