rs11187851 - PLCE1
Magnitude 2.2 · 1 study on file
Reported associations
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Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target - Unknown journal (n.d.) · Unknown authors · PubMed 37845353
ABSTRACT: Abdominal aortic aneurysm (AAA) is a common disease with substantial heritability. In this study, we performed a genome-wide association meta-analysis from 14 discovery cohorts and uncovered 141 independent associations, including 97 previously unreported loci. A polygenic risk score derived from meta-analysis explained AAA risk beyond clinical risk factors. Genes at AAA risk loci indicate involvement of lipid metabolism, vascular development and remodeling, extracellular matrix dysregulation and inflammation as key mechanisms in AAA pathogenesis. These genes also indicate overlap between the development of AAA and other monogenic aortopathies, particularly via transforming growth factor β signaling. Motivated by the strong evidence for the role of lipid metabolism in AAA, we us
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Screening
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Abdominal aortic aneurysm screening Moderate
rs11187851 is strongly associated with increased abdominal aortic aneurysm risk, indicating genetic predisposition to aortic disease.
Discuss AAA screening timing and modality with physician; typical screening ages 60-75 for high-risk individuals
- GWAS_CATALOG:37845353