PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance

Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiolog...

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Published in:PLoS genetics 2016-10, Vol.12 (10), p.e1006367-e1006367
Main Authors: Kiando, Soto Romuald, Tucker, Nathan R, Castro-Vega, Luis-Jaime, Katz, Alexander, D'Escamard, Valentina, Tréard, Cyrielle, Fraher, Daniel, Albuisson, Juliette, Kadian-Dodov, Daniella, Ye, Zi, Austin, Erin, Yang, Min-Lee, Hunker, Kristina, Barlassina, Cristina, Cusi, Daniele, Galan, Pilar, Empana, Jean-Philippe, Jouven, Xavier, Gimenez-Roqueplo, Anne-Paule, Bruneval, Patrick, Hyun Kim, Esther Soo, Olin, Jeffrey W, Gornik, Heather L, Azizi, Michel, Plouin, Pierre-François, Ellinor, Patrick T, Kullo, Iftikhar J, Milan, David J, Ganesh, Santhi K, Boutouyrie, Pierre, Kovacic, Jason C, Jeunemaitre, Xavier, Bouatia-Naji, Nabila
Format: Article
Language:English
Subjects:
Animals
Arteries - metabolism
Arteries - pathology
Biology and Life Sciences
Carotid Arteries - metabolism
Carotid Arteries - pathology
Carotid Intima-Media Thickness
Colleges & universities
Danio rerio
Disease Models, Animal
Disease susceptibility
Dysplasia
Epigenetic inheritance
Exome - genetics
Experiments
Female
Fibromuscular Dysplasia - genetics
Fibromuscular Dysplasia - pathology
Gene Expression Regulation
Genetic aspects
Genetic Association Studies
Genetic Predisposition to Disease
Genetics
Genotype
Health aspects
Hospitals
Human genetics
Humans
Hypertension
Hypertension - genetics
Hypertension - pathology
Internal medicine
Life Sciences
Male
Medicine
Medicine and Health Sciences
Microfilament Proteins - biosynthesis
Microfilament Proteins - genetics
Myocytes, Smooth Muscle
Nephrology
Population genetics
Stroke - genetics
Stroke - pathology
Zebrafish - genetics
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Description
Summary:Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We analyzed ~26K common variants (MAF>0.05) generated by exome-chip arrays in 249 FMD patients and 689 controls. We replicated 13 loci (P
ISSN:1553-7404
1553-7390
1553-7404
DOI:10.1371/journal.pgen.1006367