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

Stéphanie Debette 1 Yoichiro Kamatani 2, 3 Tiina M Metso Manja Kloss Ganesh Chauhan 4 Stefan T Engelter Alessandro Pezzini Vincent Thijs Hugh S Markus 5 Martin Dichgans 6 Christiane Wolf 7 Ralf Dittrich 8 Emmanuel Touzé Andrew M Southerland Yves Samson 9 Shérine Abboud 10 Yannick Béjot 11 Valeria Caso Anna Bersano Andreas Gschwendtner Maria Sessa John Cole Chantal Lamy 12 Elisabeth Medeiros Simone Beretta 13, 14 Leo H Bonati Armin J Grau 15 Patrik Michel 16 Jennifer J Majersik Pankaj Sharma Ludmila Kalashnikova Maria Nazarova Larisa Dobrynina Eva Bartels Benoit Guillon 17 Evita G Van den Herik Israel Fernandez-Cadenas Katarina Jood 18 Michael A Nalls 19 Frank-Erik De Leeuw 20 Christina Jern 18 Yu-Ching Cheng 21 Inge Werner 22 Antti J Metso Christoph Lichy Philippe A Lyrer Tobias Brandt Giorgio B Boncoraglio Heinz-Erich Wichmann 23 Christian Gieger 24 Andrew D Johnson Thomas Böttcher Maurizio Castellano Dominique Arveiler 25 M Arfan Ikram 26, 27, 28 Monique M B Breteler 29, 30 Alessandro Padovani 31 James F Meschia Gregor Kuhlenbäumer 32 Arndt Rolfs 33 Bradford B Worrall Erich-Bernd Ringelstein 34 Diana Zelenika 35 Turgut Tatlisumak Mark Lathrop 36 Didier Leys Philippe Amouyel 37, 38 Jean Dallongeville 39
7 imagine - Extraction de Caractéristiques et Identification
LIRIS - Laboratoire d'InfoRmatique en Image et Systèmes d'information
9 NEMESIS-CRICM - Equipe NEMESIS - Centre de Recherches de l'Institut du Cerveau et de la Moelle épinière
CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
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
Contributeur : Olivier Colliot <>
Soumis le : samedi 9 janvier 2016 - 18:50:54
Dernière modification le : jeudi 20 septembre 2018 - 14:00:21

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  • HAL Id : hal-01253336, version 1
  • PUBMED : 25420145

Citation

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. 〈hal-01253336〉

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