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

doi:10.1371/journal.pgen.1006367

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Article

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

PLoS genetics - 1 Oct 2016

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

Abstract excerpt

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...

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Identifiers

PMID: 27792790
DOI: 10.1371/journal.pgen.1006367
PMCID: PMC5085032

Genes

PHACTR1
MAF

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