Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nat Commun. 2023 Jan 23;14(1):377. doi: 10.1038/s41467-023-35888-4.
Human bulk tissue samples comprise multiple cell types with diverse roles in disease etiology. Conventional transcriptome-wide association study approaches predict genetically regulated gene expression at the tissue level, without considering cell-type heterogeneity, and test associations of predicted tissue-level expression with disease. Here we develop MiXcan, a cell-type-aware transcriptome-wide association study approach that predicts cell-type-level expression, identifies disease-associated genes via combination of cell-type-level association signals for multiple cell types, and provides insight into the disease-critical cell type. As a proof of concept, we conducted cell-type-aware analyses of breast cancer in 58,648 women and identified 12 transcriptome-wide significant genes using MiXcan compared with only eight genes using conventional approaches. Importantly, MiXcan identified genes with distinct associations in mammary epithelial versus stromal cells, including three new breast cancer susceptibility genes. These findings demonstrate that cell-type-aware transcriptome-wide analyses can reveal new insights into the genetic and cellular etiology of breast cancer and other diseases.
人体组织样本包含多种具有不同疾病病因作用的细胞类型。传统的转录组全基因组关联研究方法预测组织水平上受遗传调控的基因表达,而不考虑细胞类型异质性,并检测预测的组织水平表达与疾病的关联。在这里,我们开发了 MiXcan,这是一种细胞类型感知的转录组全基因组关联研究方法,可预测细胞类型水平的表达,通过对多种细胞类型的细胞类型水平关联信号进行组合来识别与疾病相关的基因,并深入了解疾病关键细胞类型。作为概念验证,我们对 58648 名女性的乳腺癌进行了细胞类型感知分析,使用 MiXcan 鉴定了 12 个转录组全基因组显著基因,而使用传统方法仅鉴定了 8 个基因。重要的是,MiXcan 鉴定了在乳腺上皮细胞与基质细胞中具有不同关联的基因,包括三个新的乳腺癌易感基因。这些发现表明,细胞类型感知的转录组全基因组分析可以深入了解乳腺癌和其他疾病的遗传和细胞病因。
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