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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
Fee Ling Fee Ling 1,2Jun Zhang Jun Zhang 3*Degen Zhuo Degen Zhuo 4,5*
  • 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

The final, formatted version of the article will be published soon.

    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

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