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Medline ® Abstract for Reference 30

of 'Clinical manifestations and diagnosis of fibromuscular dysplasia'

Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.
Debette S, Kamatani Y, Metso TM, Kloss M, Chauhan G, Engelter ST, Pezzini A, Thijs V, Markus HS, Dichgans M, Wolf C, Dittrich R, TouzéE, Southerland AM, Samson Y, Abboud S, Béjot Y, Caso V, Bersano A, Gschwendtner A, Sessa M, Cole J, Lamy C, Medeiros E, Beretta S, Bonati LH, Grau AJ, Michel P, Majersik JJ, Sharma P, Kalashnikova L, Nazarova M, Dobrynina L, Bartels E, Guillon B, van den Herik EG, Fernandez-Cadenas I, Jood K, Nalls MA, De Leeuw FE, Jern C, Cheng YC, Werner I, Metso AJ, Lichy C, Lyrer PA, Brandt T, Boncoraglio GB, Wichmann HE, Gieger C, Johnson AD, Böttcher T, Castellano M, Arveiler D, Ikram MA, Breteler MM, Padovani A, Meschia JF, Kuhlenbäumer G, Rolfs A, Worrall BB, International Stroke Genetics Consortium, Ringelstein EB, Zelenika D, Tatlisumak T, Lathrop M, Leys D, CADISP group, Amouyel P, Dallongeville J
Nat Genet. 2015 Jan;47(1):78-83. Epub 2014 Nov 24.
Cervical artery dissection (CeAD), a mural hematoma in a carotid or vertebral artery, is a major cause of ischemic stroke in young adults although relatively uncommon in the general population (incidence of 2.6/100,000 per year). Minor cervical traumas, infection, migraine and hypertension are putative risk factors, and inverse associations with obesity and hypercholesterolemia are described. No confirmed genetic susceptibility factors have been identified using candidate gene approaches. We performed genome-wide association studies (GWAS) in 1,393 CeAD cases and 14,416 controls. The rs9349379[G]allele (PHACTR1) was associated with lower CeAD risk (odds ratio (OR) = 0.75, 95% confidence interval (CI) = 0.69-0.82; P = 4.46×10(-10)), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91×10(-3); combined P = 1.00×10(-11)). The rs9349379[G]allele was previously shown to be associated with lower risk of migraine and increased risk of myocardial infarction. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.
1]INSERM U744, Lille, France. [2]Institut Pasteur de Lille, Lille, France. [3]UniversitéLille Nord de France, Lille, France. [4]Lille University Hospital, Lille, France. [5]Department of Neurology, Equipe d'accueil 1046, Lille, France. [6]INSERM U897, University of Bordeaux, Bordeaux, France.