ArticleJACC. Advances2025
Predicting Thoracic Aortic Dissection in a Diverse Biobank Using a Polygenic Risk Score.
Article in JACC. Advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Identification of a novel pathogenic variant in MYLK in an Iranian family with non-syndromic familial aortic aneurysm and dissection by whole-exome sequencing and literature review.BMC medical genomics · 2026Review
- Genetic Susceptibility to Incisional Hernia Evaluation of Hernia Polygenic Risk Scores.medRxiv : the preprint server for health sciences · 2026Article
- Aortic dissection as a disease of vascular wall homeostasis: integrating vasa vasorum-inflammation-metabolism axis for mechanistic insight and clinical translation.Frontiers in immunology · 2026Review
- Genetic Causes of Thoracic Aortic Aneurysm: A Review.Methodist DeBakey cardiovascular journal · 2026Review
- Epigenomic landscape of single vascular cells reflects developmental origin and disease risk loci.Molecular systems biology · 2025Article
- Geometric Aging of the Thoracic Aorta: Insights From 2 Large Cohorts.Hypertension (Dallas, Tex. : 1979) · 2025Article
- Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection.medRxiv : the preprint server for health sciences · 2025Article
- Microbiomics and metabolomics explored the characteristics of gut microbiota and metabolites in patients with aortic dissection.Frontiers in cellular and infection microbiology · 2025Article
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Authors and funding
18 authors.
Funding
Abstract
backgroundThoracic aortic dissection is a life-threatening condition that often occurs in the presence of aortic dilation. However, currently there are limited clinical risk factors beyond aortic diameter (AoD) used to determine individual-level dissection risk.
objectivesThe purpose of this study was to determine whether common variant genetics can be used to improve identification of individuals most at risk for dissection.
methodsA genome-wide association study (GWAS)-by-subtraction was performed to characterize the diameter-independent genetics of thoracic aortic dissection by subtracting a GWAS of AoD from a GWAS of thoracic aortic aneurysm and dissection. A polygenic risk score (PRS) was calculated using the PRS-Continuous Shrinkage statistical package and applied to Penn Medicine BioBank participants. Statistical analysis was performed in R version 4.3.2.
resultsWe identified 43 genetic risk loci associated with dissection and derived a "Dissection-PRS" from our GWAS-by-subtraction. In the Penn Medicine BioBank, the Dissection-PRS associated with prevalent dissection (OR: 2.13 per 1 SD increase in Dissection-PRS; 95% CI: 1.91-2.39; P < 0.001). When adjusting for risk factors including AoD, the association of the Dissection-PRS with prevalent dissection was attenuated but remained statistically robust (OR: 1.62 per 1 SD increase in PRS; 95% CI: 1.36-1.94; P < 0.001). The addition of the PRS to a model containing age, sex, and clinical risk factors substantially improved model discrimination (base model area under the receiver operator characteristic curve = 0.676; 95% CI: 0.651-0.702; with addition of PRS area under the receiver operator characteristic curve = 0.723; 95% CI: 0.702-0.744).
conclusionsA common-variant PRS can predict aortic dissection in a diverse population.
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