2014
Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection
Publication
Publication
Nature Genetics , Volume 47 - Issue 1
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)<sup>1</sup>. Minor cervical traumas, infection, migraine and hypertension are putative risk factors<sup>1-3</sup>, and inverse associations with obesity and hypercholesterolemia are described<sup>3</sup>,<sup>4</sup>. 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<sup>-10</sup>), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 × 10<sup>-3</sup>; combined P = 1.00 × 10<sup>-11</sup>). 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.
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| doi.org/10.1038/ng.3154, hdl.handle.net/1765/90125 | |
| Nature Genetics | |
| Organisation | Department of Radiology |
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Debette, S., Kamatani, Y., Metso, T. M., Kloss, M., Chauhan, G., Engelter, S. T., … Dallongeville, J. (2014). Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. Nature Genetics, 47(1). doi:10.1038/ng.3154 |
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