Genetic association studies of fibromuscular dysplasia identify new risk loci and shared genetic basis with more common vascular diseases
Georges, A.; Yang, M.-L.; Berrandou, T.-E.; Bakker, M.; Dikilitas, O.; Kiando, S. R.; Ma, L.; Satterfield, B. A.; Sengupta, S.; Yu, M.; Deleuze, J.-F.; Dupre, D.; Hunker, K. L.; Kyryachenko, S.; Liu, L.; Amar, L.; Brumett, C. M.; Coleman, D. M.; d'Escamard, V.; de Leeuw, P.; Fendrikova-Mahlay, N.; Kadian-Dodov, D.; Li, J. Z.; Lorthioir, A.; Pappaccogli, M.; Prejbisz, A.; Smigielski, W.; Stanley, J. C.; Zawistowski, M.; Zhou, X.; Zoellner, S.; FEIRI investigators, ; International stroke genetics consortium (ISGC) intracranial aneurysm working group, ; MEGASTROKE, ; AMOUYEL, P.; De Buyzere, M
Show abstract
Fibromuscular dysplasia (FMD) is an arteriopathy that presents clinically by hypertension and stroke, mostly in early middle-aged women. We report results from the first genome-wide association meta-analysis of FMD including 1962 FMD cases and 7100 controls. We confirmed PHACTR1 and identified three new loci (LRP1, ATP2B1, and LIMA1) associated with FMD. Transcriptome-wide association analysis in arteries identified one additional locus (SLC24A3). FMD associated variants were located in arterial-specific enhancers active in vascular smooth muscle cells and fibroblasts. Target genes are broadly involved in mechanisms related to actin cytoskeleton and intracellular calcium homeostasis, central to vascular contraction. Cross-trait linkage disequilibrium analyses identified positive genetic correlations with blood pressure, migraine and intracranial aneurysm, and an inverse correlation with coronary artery disease, independent from the genetics of blood pressure.
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