Bidirectional Risk Modulator and Modifier Variant of Dilated and Hypertrophic Cardiomyopathy in <i>BAG3</i>
BAG3 C151R was identified as a bidirectional modulator of risk along the DCM-HCM spectrum, as well as an important genetic modifier variant in TTN-mediated DCM. This work expands on the understanding of the etiology and penetrance of DCM, suggesting that BAG3 C151R is an important genetic modifier variant contributing to the variable expressivity of DCM, warranting further exploration of its mechanisms and of genetic modifiers in DCM more broadly.
Authors
- Melissa Kelly (ORCID: https://orcid.org/0000-0003-4708-2261)
- Nosheen Reza (ORCID: https://orcid.org/0000-0002-2942-3731)
- Ray E. Hershberger (ORCID: https://orcid.org/0000-0001-5683-6526)
- Jonathan O. Mead
- ANJALI TIKU OWENS (ORCID: https://orcid.org/0000-0002-9669-8495)
- Renae Judy (ORCID: https://orcid.org/0000-0003-0915-2222)
- Eric Carruth (ORCID: https://orcid.org/0000-0001-8184-8676)
- Colleen Morse Kripke (ORCID: https://orcid.org/0009-0007-3117-685X)
- Daniel D. Kinnamon (ORCID: https://orcid.org/0000-0002-0867-5227)
- Michael G. Levin (ORCID: https://orcid.org/0000-0002-9937-9932)
- Anurag Verma (ORCID: https://orcid.org/0000-0002-2460-9967)
- Scott M. Damrauer (ORCID: https://orcid.org/0000-0001-8009-1632)
- Amalia A. Winters (ORCID: https://orcid.org/0000-0002-7574-5539)
- David Zhang (ORCID: https://orcid.org/0000-0003-1377-9829)
- Joseph Park (ORCID: https://orcid.org/0000-0002-3313-641X)
- Lisa Bastarache
- Marylyn D. Ritchie
- Daniel J. Rader
Institutions
- NewYork–Presbyterian Hospital (US)
- Cornell University (US)
- New York Hospital Queens (US)
- Presbyterian Hospital (US)
- Autism & Developmental Medicine Institute (US)
- Lung Institute (US)
- Translational Therapeutics (United States) (US)
- Philadelphia VA Medical Center (US)
- Genomic Health (United States) (US)
- The Ohio State University (US)
- Geisinger Health System (US)
- University of Pennsylvania (US)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- JAMA Cardiology
- Published
- 2024-11-13
- DOI
- https://doi.org/10.1001/jamacardio.2024.3547
- Citations
- 7
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 2.81