The final, formatted version of the article will be published soon.
ORIGINAL RESEARCH article
Front. Genet.
Sec. Human and Medical Genomics
Volume 15 - 2024 |
doi: 10.3389/fgene.2024.1438887
This article is part of the Research Topic Structural Variants, Hereditary Fusion Genes, and Diseases View all articles
A Statistical Model to Identify Hereditary and Epigenetic Fusion Genes Associated with Dilated Cardiomyopathy
Provisionally accepted- 1 Dept of Cardiology, Dept of Cardiology, The Affiliated Hospital of North Sichuan, Chengdu Xinhua Hospital, Cheng Du, 610055, China, Chengdu, China
- 2 Dept of Cardiology, Chengdu Xinhua hospital, chengdu, China
- 3 First Clinical Medical College, Tianjin Medical University, Tianjin, China
- 4 BioTailor Inc, Miami, United States
- 5 Dept of Cardiology, The Affiliated Hospital of North Sichuan, Chengdu Xinhua Hospital, Cheng Du, 610055, China, Chengdu, China
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.
Keywords: hereditary1, germline2, fusion gene3, dilated cardiomyopathy4, epigenetic5. RNA-Seq6, inheritance7, genomics8
Received: 26 May 2024; Accepted: 09 Sep 2024.
Copyright: © 2024 Ling, Zhang and Zhuo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Jun Zhang, First Clinical Medical College, Tianjin Medical University, Tianjin, 300070, China
Degen Zhuo, BioTailor Inc, Miami, United States
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.