| Literature DB >> 25420145 |
Stéphanie Debette1, Yoichiro Kamatani2, Tiina M Metso3, Manja Kloss4, Ganesh Chauhan5, Stefan T Engelter6, Alessandro Pezzini7, Vincent Thijs8, Hugh S Markus9, Martin Dichgans10, Christiane Wolf11, Ralf Dittrich12, Emmanuel Touzé13, Andrew M Southerland14, Yves Samson15, Shérine Abboud16, Yannick Béjot17, Valeria Caso18, Anna Bersano19, Andreas Gschwendtner10, Maria Sessa20, John Cole21, Chantal Lamy22, Elisabeth Medeiros23, Simone Beretta24, Leo H Bonati6, Armin J Grau25, Patrik Michel26, Jennifer J Majersik27, Pankaj Sharma28, Ludmila Kalashnikova29, Maria Nazarova30, Larisa Dobrynina29, Eva Bartels31, Benoit Guillon32, Evita G van den Herik33, Israel Fernandez-Cadenas34, Katarina Jood35, Michael A Nalls36, Frank-Erik De Leeuw37, Christina Jern37, Yu-Ching Cheng21, Inge Werner4, Antti J Metso3, Christoph Lichy4, Philippe A Lyrer6, Tobias Brandt38, Giorgio B Boncoraglio19, Heinz-Erich Wichmann39, Christian Gieger40, Andrew D Johnson41, Thomas Böttcher42, Maurizio Castellano43, Dominique Arveiler44, M Arfan Ikram45, Monique M B Breteler46, Alessandro Padovani7, James F Meschia47, Gregor Kuhlenbäumer48, Arndt Rolfs42, Bradford B Worrall49, Erich-Bernd Ringelstein12, Diana Zelenika50, Turgut Tatlisumak3, Mark Lathrop51, Didier Leys52, Philippe Amouyel53, Jean Dallongeville54.
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.Entities:
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Year: 2014 PMID： 25420145 PMCID： PMC5824623 DOI： 10.1038/ng.3154
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330