Polygenic Scoring for Detection of Ascending Thoracic Aortic Dilation
We demonstrated that inclusion of a UK Biobank-derived PGS to the AORTA score confers a clinically meaningful improvement in model performance only among individuals genetically similar to European reference populations and may exacerbate existing health care disparities.
Authors
- Nimesh D. Desai (ORCID: https://orcid.org/0000-0002-4456-5674)
- Joseph E. Bavaria (ORCID: https://orcid.org/0000-0001-7145-0453)
- John DePaolo (ORCID: https://orcid.org/0000-0002-6829-2594)
- Renae Judy (ORCID: https://orcid.org/0000-0003-0915-2222)
- Gina Biagetti (ORCID: https://orcid.org/0000-0003-3049-1659)
- John J. Kelly (ORCID: https://orcid.org/0000-0002-9690-3137)
- Grace J. Wang (ORCID: https://orcid.org/0000-0003-3241-9669)
- Amit Iyengar
- Nicholas Goel (ORCID: https://orcid.org/0000-0001-8210-5815)
- Michael G. Levin (ORCID: https://orcid.org/0000-0002-9937-9932)
- Scott M. Damrauer (ORCID: https://orcid.org/0000-0001-8009-1632)
- Wilson Y. Szeto
Institutions
- Mahindra and Mahindra Limited (India) (IN)
- Institute of General & Endovascular Neurosurgery (US)
- Philadelphia VA Medical Center (US)
- Pediatrics and Genetics (US)
- University of Pennsylvania (US)
- Jisc (GB)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2024-09-26
- DOI
- https://doi.org/10.1161/circgen.123.004512
- Citations
- 1
- Primary Topic
- Aortic Disease and Treatment Approaches
- Type
- article
- Field-Weighted Citation Impact
- 0.42
Funders
- American Heart Association
- Office of Research and Development
- University of Pennsylvania
- Institute for Translational Medicine and Therapeutics
- Regeneron Pharmaceuticals
- Georgia Clinical and Translational Science Alliance
- University of Pennsylvania Health System
- National Institutes of Health
- Perelman School of Medicine, University of Pennsylvania
- National Heart, Lung, and Blood Institute
- National Center for Advancing Translational Sciences