Elucidating expression patterns of heart-specific genes is crucial for understanding developmental, physiological, and pathological processes of the heart. The aim of the present study is to identify functionally and pathologically important heart-specific genes by performing the Ingenuity Pathway Analysis (IPA). Through a median-based analysis of tissue-specific gene expression based on the Genotype-Tissue Expression (GTEx) data, we identified 56 genes with heart-specific or elevated expressions in the heart (heart-specific/enhanced), among which three common heart-specific/enhanced genes and four atrial appendage-specific/enhanced genes were unreported regarding the heart. Differential expression analysis further revealed 225 differentially expressed genes (DEGs) between atrial appendage and left ventricle. Our integrative analyses of those heart-specific/enhanced genes and DEGs with IPA revealed enriched heart-related traits and diseases, consolidating evidence of relationships between these genes and heart function. Our reports on comprehensive identification of heart-specific/enhanced genes and DEGs and their relation to pathways associated with heart-related traits and diseases provided molecular insights into essential regulators of cardiac physiology and pathophysiology and potential new therapeutic targets for heart diseases.

阐明心脏特异性基因的表达模式对于理解心脏的发育，生理和病理过程至关重要。本研究的目的是通过执行创造力途径分析（IPA）来鉴定功能上和病理上重要的心脏特异性基因。通过基于基因型组织表达（GTEx）数据的组织特异性基因表达的中值分析，我们确定了56个基因在心脏中具有心脏特异性或表达升高（心脏特异性/增强），其中三个常见关于心脏，未报道心脏特异性/增强基因和四个心房附件特异性/增强基因。差异表达分析进一步揭示了心耳与左心室之间的225个差异表达基因（DEG）。我们对那些具有IPA的心脏特异性/增强型基因和DEG的综合分析揭示了丰富的心脏相关性状和疾病，巩固了这些基因与心脏功能之间关系的证据。我们关于心脏特异性/增强基因和DEG的全面鉴定及其与心脏相关性状和疾病相关途径的关系的报告为分子提供了有关心脏生理和病理生理基本调节剂以及潜在的心脏病新治疗靶点的分子见解。