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

Journal article
Authors Stéphanie Debette
Yoichiro Kamatani
Tiina M Metso
Manja Kloss
Ganesh Chauhan
Stefan T Engelter
Alessandro Pezzini
Vincent Thijs
Hugh S Markus
Martin Dichgans
Christiane Wolf
Ralf Dittrich
Emmanuel Touzé
Andrew M Southerland
Yves Samson
Shérine Abboud
Yannick Béjot
Valeria Caso
Anna Bersano
Andreas Gschwendtner
Maria Sessa
John Cole
Chantal Lamy
Elisabeth Medeiros
Simone Beretta
Leo H Bonati
Armin J Grau
Patrik Michel
Jennifer J Majersik
Pankaj Sharma
Ludmila Kalashnikova
Maria Nazarova
Larisa Dobrynina
Eva Bartels
Benoit Guillon
Evita G van den Herik
Israel Fernandez-Cadenas
Katarina Jood
Michael A Nalls
Frank-Erik De Leeuw
Christina Jern
Yu-Ching Cheng
Inge Werner
Antti J Metso
Christoph Lichy
Philippe A Lyrer
Tobias Brandt
Giorgio B Boncoraglio
Heinz-Erich Wichmann
Christian Gieger
Andrew D Johnson
Thomas Böttcher
Maurizio Castellano
Dominique Arveiler
M Arfan Ikram
Monique M B Breteler
Alessandro Padovani
James F Meschia
Gregor Kuhlenbäumer
Arndt Rolfs
Bradford B Worrall
Erich-Bernd Ringelstein
Diana Zelenika
Turgut Tatlisumak
Mark Lathrop
Didier Leys
Philippe Amouyel
Jean Dallongeville
Published in Nature Genetics
Volume 47
Pages 78-83
ISSN 1061-4036
Publication year 2015
Published at Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation
Pages 78-83
Language en
Subject categories Basic Medicine


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)1. Minor cervical traumas, infection, migraine and hypertension are putative risk factors1–3, and inverse associations with obesity and hypercholesterolemia are described3,4. No confirmed genetic susceptibility factors have been identified using candidate gene approaches5. We performed genome-wide association studies (GWAS) in 1 1,393 CeAD cases and 1 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 × 1 10−10), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 1 × 1 10−3; combined P = 1 1.00 × 1 10−1111). The rs9349379[G] allele was previously shown to be associated with lower risk of migraine and increased risk of myocardial infarction6–9. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.

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