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Updated: Jun 9, 2025
Author Spotlight: Nuclei Isolation from Mouse Cardiac Progenitor Cells for Epigenome and Gene Expression Profiling at Single-Cell Resolution
Published on: May 12, 2023
Genetic inference and single cell expression analysis of potential targets in heart failure and breast cancer
Yue Li1, Ying Huang1, Ning An1
1Department of Cardiovascular, Liaoning Jinqiu Hospital, No. 317 Xiaonan Street, Shenhe District, Shenyang, Liaoning Province, 110016, China.
Background:
Breast cancer and heart failure are major public health issues globally, characterized by significant genetic heterogeneity and complex molecular mechanisms. This study aims to explore potential genetic targets in heart failure and breast cancer through combining genetic inference and single-cell expression analysis, and to assess the causal relationships of these targets using Mendelian randomization methods.
Methods:
We first identified genetic variants associated with heart failure and breast cancer using genome-wide association study (GWAS) data. Subsequently, we analyzed the expression patterns of these genetic variants in different cell types through single-cell RNA sequencing technology. Furthermore, we utilized in vitro experiment to assess the effects of ITM2B on MCF7 using immunofluorescence.
Results:
Our study identified multiple genetic variants associated with heart failure and breast cancer, showing specific expression patterns in heart and breast cells. The ITM2B gene is highly expressed in breast cancer. ITM2B shows the highest expression in T cells and the lowest expression in proliferating cells. Silencing the ITM2B gene can promote apoptosis and inhibit proliferation and migration of MCF7 breast cancer cells.
Conclusion:
By integrating genetic inference and single-cell expression analysis, this study revealed potential genetic targets in heart failure and breast cancer, and validated the causal effects of these targets using Mendelian randomization methods.
