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

Details

Serval ID
serval:BIB_BADD547AF0FF
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection.
Journal
Nature Genetics
Author(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.
Working group(s)
International Stroke Genetics Consortium, CADISP group
ISSN
1546-1718 (Electronic)
ISSN-L
1061-4036
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
47
Number
1
Pages
78-83
Language
english
Notes
Publication types: Journal Article Publication Status: ppublish
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). 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
Create date
29/01/2015 20:13
Last modification date
20/08/2019 15:28
Usage data