GEORGES, Adrien; YANG, Min Lee; BERRANDOU, Takiy Eddine; BAKKER, Mark R.; DIKILITAS, Ozan; KIANDO, Soto Romuald; MA, Lijiang; SATTERFIELD, Benjamin A.; SENGUPTA, Sebanti; YU, Mengyao; DELEUZE, Jean Francois; DUPRE, Delia; HUNKER, Kristina L.; KYRYACHENKO, Sergiy; LIU, Lu; SAYOUD-SADEG, Ines; AMAR, Laurence; BRUMMETT, Chad M.; COLEMAN, Dawn M.; D'ESCAMARD, Valentina; DE LEEUW, Peter; FENDRIKOVA-MAHLAY, Natalia; KADIAN-DODOV, Daniella; LI, Jun Z.; LORTHIOIR, Aurelien; PAPPACCOGLI, Marco; PREJBISZ, Aleksander; SMIGIELSKI, Witold; STANLEY, James C.; ZAWISTOWSKI, Matthew; ZHOU, Xiang; ZOLLNER, Sebastian; INVESTIGATORS, Feiri; INTERNATIONAL STROKE GENETICS CONSORTIUM INTRACRANIAL ANEURYSM WORKING, Group; AMOUYEL, Philippe; DE BUYZERE, Marc L.; DEBETTE, Stephanie; DOBROWOLSKI, Piotr; DRYGAS, Wojciech; GORNIK, Heather L.; OLIN, Jeffrey W.; PIWONSKI, Jerzy; RIETZSCHEL, Ernst R.; RUIGROK, Ynte M.; VIKKULA, Miikka; WARCHOL CELINSKA, Ewa; JANUSZEWICZ, Andrzej; KULLO, Iftikhar J.; AZIZI, Michel; JEUNEMAITRE, Xavier; PERSU, Alexandre; KOVACIC, Jason C.; GANESH, Santhi K.; BOUATIA-NAJI, Nabila

doi:10.1038/s41467-021-26174-2

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Nature Communications. 2021-10-15, vol. 12, n° 1, p. 6031

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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 homeostasis, central to vascular contraction. We find significant genetic overlap between FMD and more common cardiovascular diseases and traits including blood pressure, migraine, intracranial aneurysm, and coronary artery disease.< Leer menos

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https://oskar-bordeaux.fr/handle/20.500.12278/123993

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http://dx.doi.org/10.1038/s41467-021-26174-2

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Université de Paris

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Bordeaux Population Health Research Center (BPH) - UMR 1219

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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases

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