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

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 GschwendtnerMaria 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

Research output: Contribution to journalArticlepeer-review

119 Scopus citations


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 1,393 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 infarction6-9. Deciphering the mechanisms underlying this pleiotropy might provide important information on the.

Original languageEnglish (US)
Pages (from-to)78-83
Number of pages6
JournalNature Genetics
Issue number1
StatePublished - 2014

ASJC Scopus subject areas

  • Genetics


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