Published in

Nature Research, Nature Genetics, 1(47), p. 78-83, 2014

DOI: 10.1038/ng.3154

Links

Tools

Export citation

Search in Google Scholar

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

Journal article published in 2014 by Stéphanie Debette, Evita G. van den Herik, 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 and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

Full text: Download

Green circle
Preprint: archiving allowed
Orange circle
Postprint: archiving restricted
Red circle
Published version: archiving forbidden
Data provided by SHERPA/RoMEO

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)1. Minor cervical traumas, infection, migraine and hypertension are putative risk factors1, 2, 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, 7, 8, 9. Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.