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多组织转录全基因组关联研究确定了235个乳腺癌内在亚型的基因

James L Li¹, Julian C McClellan¹, Haoyu Zhang²

¹Department of Public Health Sciences, University of Chicago, Chicago, IL, USA.

Journal of the National Cancer Institute

|February 24, 2024

概括

这项研究使用了全转录组关联研究 (TWAS) 来识别影响乳腺癌 (BC) 亚型的基因. 它揭示了亚型特定的基因,并突出了常见变异在BC风险中的作用,包括CHEK2和MDM4.

科学领域:

遗传学是一个遗传学.
基因组学就是基因组学.
癌症研究癌症研究

背景情况:

全基因组关联研究 (GWAS) 确定了与乳腺癌 (BC) 亚型相关的常见变异,但涉及的特定基因仍然不清楚.
全转录组关联研究 (TWAS) 已经将基因与整体BC风险联系起来,但亚型特定的关联在很大程度上尚未被探索.

研究的目的:

使用多组织TWAS识别与特定乳腺癌内在亚型相关的基因.
调查常见变异在调节基因表达和拼接与不同亚型的BC风险相关的作用.

主要方法:

通过使用来自乳腺癌协会联盟的数据,对五种内在的BC亚型进行了两次多组织TWAS (基于表达和基于拼接).
在多个组织和内核集群中分析表达量的特征位点 (eQTLs) 和拼接量的特征位点 (sQTLs).

主要成果:

在88个位点中确定了235个与至少一个BC亚型相关的基因,其中许多显示了以前未报告的亚型特定关联.
发现CHEK2中常见的变体与光线A类BC风险相关,并发现MDM4拼接变体在人口水平上的支持增加了三重阴性BC风险.

结论:

综合多组织TWAS证实了之前GWAS对BC风险和亚型的发现.
证明了影响多个组织基因表达和拼接的常见变异的实用性,以了解BC病因学.

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