识别与扩张型心肌病相关的遗传性和表观遗传融合基因的统计模型。
A statistical model to identify hereditary and epigenetic fusion genes associated with dilated cardiomyopathy.
发表日期：2024
作者：
Ling Fei, Jun Zhang, Degen Zhuo
来源：
Frontiers in Genetics
摘要：
扩张型心肌病 (DCM) 是一种导致左心室扩大和衰弱并影响心脏有效泵血能力的心脏病。大多数遗传病因学仍需了解。此前，我们使用已知的种系遗传融合基因（HFG）来识别与多发性骨髓瘤和白血病相关的 HFG。在这项研究中，我们开发了一个统计模型来研究从 122 名 DCM 患者和 252 名 GTEx（基因型组织表达）健康对照的左心室中发现的融合转录本，以发现新的 HFG（范围从 4% 到 87.7%）和 EFG（范围从 4% 到 87.7%）从 4% 到 99.2%，与 DCM 相关。大量与 DCM 相关的新型 HFG 和 EFG 的发现提供了第一手证据，表明 DCM 是种系遗传和环境异常之间相互作用的发育后果的结果，并为未来的研究以及诊断和治疗应用铺平了道路，为 DCM 治疗的未来注入了希望.版权所有 © 2024 费、张和卓。
Dilated cardiomyopathy (DCM) is a heart condition that causes enlarged and weakened left ventricles and affects the heart's ability to pump blood effectively. Most genetic etiology still needs to be understood. Previously, we have used the known germline hereditary fusion genes (HFGs) to identify HFGs associated with multiple myeloma and leukemia. In this study, we have developed a statistical model to study fusion transcripts discovered from the left ventricles of 122 DCM patients and 252 GTEx (Genotype Tissue Expression) healthy controls to discover novel HFGs, ranging from 4% to 87.7%, and EFGs, ranging from 4% to 99.2%, associated with DCM. This discovery of numerous novel HFGs and EFGs associated with DCM provides first-hand evidence that DCM results from interactive developmental consequences between germline genetic and environmental abnormalities and paves the way for future research and diagnostic and therapeutic applications, instilling hope for the future of DCM treatment.Copyright © 2024 Fei, Zhang and Zhuo.