rs12226396 - MIR4299 - MIR8070

Magnitude 2.2 · 1 study on file

Reported associations

• Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases - Unknown journal (n.d.) · Unknown authors · PubMed 34654805

  ABSTRACT: Fibromuscular dysplasia (FMD) is an arteriopathy associated with hypertension, stroke and myocardial infarction, affecting mostly women. We report results from the first genome-wide association meta-analysis of six studies including 1556 FMD cases and 7100 controls. We find an estimate of SNP-based heritability compatible with FMD having a polygenic basis, and report four robustly associated loci (PHACTR1, LRP1, ATP2B1, and LIMA1). Transcriptome-wide association analysis in arteries identifies one additional locus (SLC24A3). We characterize open chromatin in arterial primary cells and find that FMD associated variants are located in arterial-specific regulatory elements. Target genes are broadly involved in mechanisms related to actin cytoskeleton and intracellular calcium homeos

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