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Debette, S.* ; Kamatani, Y.* ; Metso, T.M.* ; Kloss, M.* ; Chauhan, G.* ; Engelter, S.T.* ; Pezzini, A.* ; Thijs, V.* ; Markus, H.S.* ; Dichgans, M.* ; Wolf, C.* ; Dittrich, R.* ; Touzé, E.* ; Southerland, A.M.* ; Samson, Y.* ; Abboud, S.* ; Béjot, Y.* ; Caso, V.* ; Bersano, A.* ; Gschwendtner, A.* ; Sessa, M.* ; Cole, J.* ; Lamy, C.* ; Medeiros, E.* ; Beretta, S.* ; Bonati, L.H.* ; Grau, A.J.* ; Michel, P.* ; Majersik, J.J.* ; Sharma, P.* ; Kalashnikova, L.* ; Nazarova, M.* ; Dobrynina, L.* ; Bartels, E.* ; Guillon, B.* ; van den Herik, E.G.* ; Fernandez-Cadenas, I.* ; Jood, K.* ; Nalls, M.A.* ; de Leeuw, F.E.* ; Jern, C.* ; Cheng, Y.C.* ; Werner, I.* ; Metso, A.J.* ; Lichy, C.* ; Lyrer, P.A.* ; Brandt, T.* ; Boncoraglio, G.B.* ; Wichmann, H.-E. ; Gieger, C. ; Johnson, A.D.* ; Böttcher, T.* ; Castellano, M.* ; Arveiler, D.* ; Ikram, M.A.* ; Breteler, M.M.* ; Padovani, A.* ; Meschia, J.F.* ; Kuhlenbäumer, G.* ; Rolfs, A.* ; Worrall, B.B.* ; Ringelstein, E.B.* ; Zelenika, D.* ; Tatlisumak, T.* ; Lathrop, M* ; Leys, D.*

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

Nat. Genet. 47, 78-83 (2015)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 47, Issue: 1, Pages: 78-83 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology II (EPI2)