Natural variation of the cardiac transcriptome in humans

We investigated the gene-expression variation among humans by analysing previously published mRNA-seq and ribosome footprint profiling of heart left-ventricles from healthy donors. We ranked the genes according to their coefficient of variation values and found that the top 5% most variable genes had special features compared to the rest of the genome, such as lower mRNA levels and shorter half-lives coupled to increased translation efficiency. We observed that these genes are mostly involved with immune response and have a pleiotropic effect on disease phenotypes, indicating that asymptomatic conditions contribute to the gene expression diversity of healthy individuals.

本研究通过分析已发表的健康供体心脏左心室的mRNA测序（mRNA-seq）与核糖体足迹谱（ribosome footprint profiling）数据，探究了人类个体间的基因表达变异特征。研究依据基因的变异系数（coefficient of variation）对其进行排序，发现表达变异程度最高的前5%基因相较于基因组其余区域具有独特表达特征：具体表现为更低的mRNA水平、更短的mRNA半衰期，同时伴随更高的翻译效率。本研究观察到，这类基因主要参与免疫应答过程，并对疾病表型具有多效性（pleiotropic）影响；该结果提示无症状生理状态可促进健康个体的基因表达多样性形成。