Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors
We identified novel genetic variants predisposing to atherosclerotic cardiovascular diseases that act independently of established cardiovascular risk factors. The observed phenotypic and functional heterogeneities between HTRA1 variants suggest that distinct biochemical mechanisms drive HTRA1-related vascular disease in the brain and heart.
Authors
- Stephen O’Rahilly (ORCID: https://orcid.org/0000-0003-2199-4449)
- Ken K. Ong (ORCID: https://orcid.org/0000-0003-4689-7530)
- Brian Y.H. Lam (ORCID: https://orcid.org/0000-0002-3638-9025)
- John R. B. Perry (ORCID: https://orcid.org/0000-0001-6483-3771)
- Eugene J. Gardner (ORCID: https://orcid.org/0000-0001-9671-1533)
- Vladimı́r Saudek (ORCID: https://orcid.org/0000-0003-4980-9057)
- Anuradhika Puri (ORCID: https://orcid.org/0000-0002-3642-728X)
- Katherine A. Kentistou (ORCID: https://orcid.org/0000-0002-5816-664X)
- Felix R. Day (ORCID: https://orcid.org/0000-0003-3789-7651)
- Yajie Zhao (ORCID: https://orcid.org/0000-0002-2747-0219)
- Sam M. Lockhart (ORCID: https://orcid.org/0000-0003-2092-4350)
- Meredith E. Jackrel (ORCID: https://orcid.org/0000-0003-4406-9504)
Institutions
- Queen's University Belfast (GB)
- Washington University in St. Louis (US)
- University of Cambridge (GB)
- Wellcome/MRC Institute of Metabolic Science (GB)
- MRC Epidemiology Unit (GB)
- KWS (United Kingdom) (GB)
Publication Details
- Journal
- Circulation Genomic and Precision Medicine
- Published
- 2025-11-05
- DOI
- https://doi.org/10.1161/circgen.125.005233
- Citations
- 1
- Primary Topic
- Cerebrovascular and genetic disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.39