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Your search keyword '"M Pappaccogli"' showing total 2 results
Start Over Author "M Pappaccogli" Journal nature communications
2 results on '"M Pappaccogli"'

1. Author Correction: Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Author

Georges A, Yang ML, Berrandou TE, Bakker MK, Dikilitas O, Kiando SR, Ma L, Satterfield BA, Sengupta S, Yu M, Deleuze JF, Dupré D, Hunker KL, Kyryachenko S, Liu L, Sayoud-Sadeg I, Amar L, Brummett CM, Coleman DM, d'Escamard V, de Leeuw P, Fendrikova-Mahlay N, Kadian-Dodov D, Li JZ, Lorthioir A, Pappaccogli M, Prejbisz A, Smigielski W, Stanley JC, Zawistowski M, Zhou X, Zöllner S, Amouyel P, De Buyzere ML, Debette S, Dobrowolski P, Drygas W, Gornik HL, Olin JW, Piwonski J, Rietzschel ER, Ruigrok YM, Vikkula M, Warchol Celinska E, Januszewicz A, Kullo IJ, Azizi M, Jeunemaitre X, Persu A, Kovacic JC, Ganesh SK, and Bouatia-Naji N

Published
2022
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2. Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Author

Georges A, Yang ML, Berrandou TE, Bakker MK, Dikilitas O, Kiando SR, Ma L, Satterfield BA, Sengupta S, Yu M, Deleuze JF, Dupré D, Hunker KL, Kyryachenko S, Liu L, Sayoud-Sadeg I, Amar L, Brummett CM, Coleman DM, d'Escamard V, de Leeuw P, Fendrikova-Mahlay N, Kadian-Dodov D, Li JZ, Lorthioir A, Pappaccogli M, Prejbisz A, Smigielski W, Stanley JC, Zawistowski M, Zhou X, Zöllner S, Amouyel P, De Buyzere ML, Debette S, Dobrowolski P, Drygas W, Gornik HL, Olin JW, Piwonski J, Rietzschel ER, Ruigrok YM, Vikkula M, Warchol Celinska E, Januszewicz A, Kullo IJ, Azizi M, Jeunemaitre X, Persu A, Kovacic JC, Ganesh SK, and Bouatia-Naji N

Subjects
Adult, Arteries, Cytoskeletal Proteins genetics, Female, Fibroblasts, Gene Expression Regulation, Humans, Intracranial Aneurysm, Low Density Lipoprotein Receptor-Related Protein-1 genetics, Male, Microfilament Proteins genetics, Middle Aged, Plasma Membrane Calcium-Transporting ATPases genetics, Sodium-Calcium Exchanger genetics, Transcriptome, Cardiovascular Diseases complications, Cardiovascular Diseases genetics, Fibromuscular Dysplasia complications, Fibromuscular Dysplasia genetics, Genome-Wide Association Study
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 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., (© 2021. The Author(s).)

Published
2021
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