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Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.

Stéphanie Debette 1, 2, * Yoichiro Kamatani 3, 4 Tiina M Metso 5 Manja Kloss 6 Ganesh Chauhan 2 Stefan T Engelter 7 Alessandro Pezzini 8 Vincent Thijs 9, 10 Hugh S Markus 11 Martin Dichgans 12 Christiane Wolf 2, 13 Ralf Dittrich 14 Emmanuel Touzé 15, 16 Andrew M Southerland 17 Yves Samson 18 Shérine Abboud 19 Yannick Béjot 20 Valeria Caso 21 Anna Bersano 22 Andreas Gschwendtner 12, 23 Maria Sessa 24 John Cole 25 Chantal Lamy 26 Elisabeth Medeiros 27 Simone Beretta 28 Leo H Bonati 7 Armin J Grau 29 Patrik Michel 30 Jennifer J Majersik 31 Pankaj Sharma 32, 33 Ludmila Kalashnikova 34 Maria Nazarova 34, 35 Larisa Dobrynina 34 Eva Bartels 36 Benoit Guillon 37 Evita G van den Herik 38 Israel Fernandez-Cadenas 39, 40 Katarina Jood 41 Michael A Nalls 42 Frank-Erik de Leeuw 43 Christina Jern 43 Yu-Ching Cheng 25 Inge Werner 6 Antti J Metso 5 Christoph Lichy 6 Philippe A Lyrer 7 Tobias Brandt 44 Giorgio B Boncoraglio 22 Heinz-Erich Wichmann 45 Christian Gieger 45 Andrew D Johnson 46 Thomas Böttcher 47 Maurizio Castellano 8 Dominique Arveiler 48 M Arfan Ikram 38, 49, 50 Monique M B Breteler 51, 49 Alessandro Padovani 52 James F Meschia 53 Gregor Kuhlenbäumer 54 Arndt Rolfs 47 Bradford B Worrall 17 Erich-Bernd Ringelstein 55 Diana Zelenika 3 Turgut Tatlisumak 5 Mark Lathrop 3, 56, 57 Didier Leys 2, 58, 59, 60 Philippe Amouyel 61, 59, 62, 58 Jean Dallongeville 62, 61, 59
* Corresponding author
32 ICR2UL - Institute of Cardiovascular Research
RHUL - Royal Holloway [University of London]
Abstract : 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.
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https://hal.inria.fr/hal-01253336
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Submitted on : Saturday, January 9, 2016 - 6:50:54 PM
Last modification on : Friday, June 11, 2021 - 9:26:02 AM

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Stéphanie Debette, Yoichiro Kamatani, Tiina M Metso, Manja Kloss, Ganesh Chauhan, et al.. Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.. Nature Genetics, Nature Publishing Group, 2014, 47 (1), pp.78-83. ⟨10.1038/ng.3154⟩. ⟨hal-01253336⟩

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