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

Détails

ID Serval
serval:BIB_BADD547AF0FF
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.
Périodique
Nature Genetics
Auteur⸱e⸱s
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., Ringelstein E.B., Zelenika D., Tatlisumak T., Lathrop M., Leys D., Amouyel P., Amouyel P., Dallongeville J.
Collaborateur⸱rice⸱s
International Stroke Genetics Consortium, CADISP group
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
47
Numéro
1
Pages
78-83
Langue
anglais
Notes
Publication types: Journal Article Publication Status: ppublish
Résumé
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.
Pubmed
Web of science
Création de la notice
29/01/2015 21:13
Dernière modification de la notice
20/08/2019 16:28
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