Details

Autor(en) / Beteiligte

• Debette, Stéphanie
• Kamatani, Yoichiro
• Metso, Tiina M
• Kloss, Manja
• Chauhan, Ganesh
• Engelter, Stefan T
• Pezzini, Alessandro
• Thijs, Vincent
• Markus, Hugh S
• Dichgans, Martin
• Wolf, Christiane
• Dittrich, Ralf
• Touzé, Emmanuel
• Southerland, Andrew M
• Samson, Yves
• Abboud, Shérine
• Béjot, Yannick
• Caso, Valeria
• Bersano, Anna
• Gschwendtner, Andreas
• Sessa, Maria
• Cole, John
• Lamy, Chantal
• Medeiros, Elisabeth
• Beretta, Simone
• Bonati, Leo H
• Grau, Armin J
• Michel, Patrik
• Majersik, Jennifer J
• Sharma, Pankaj
• Kalashnikova, Ludmila
• Nazarova, Maria
• Dobrynina, Larisa
• Bartels, Eva
• Guillon, Benoit
• van den Herik, Evita G
• Fernandez-Cadenas, Israel
• Jood, Katarina
• Nalls, Michael A
• De Leeuw, Frank-Erik
• Jern, Christina
• Cheng, Yu-Ching
• Werner, Inge
• Metso, Antti J
• Lichy, Christoph
• Lyrer, Philippe A
• Brandt, Tobias
• Boncoraglio, Giorgio B
• Wichmann, Heinz-Erich
• Gieger, Christian
• Johnson, Andrew D
• Böttcher, Thomas
• Castellano, Maurizio
• Arveiler, Dominique
• Ikram, M Arfan
• Breteler, Monique M B
• Padovani, Alessandro
• Meschia, James F
• Kuhlenbäumer, Gregor
• Rolfs, Arndt
• Worrall, Bradford B
• Ringelstein, Erich-Bernd
• Zelenika, Diana
• Tatlisumak, Turgut
• Lathrop, Mark
• Leys, Didier
• Amouyel, Philippe
• Dallongeville, Jean

Titel

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

Ist Teil von

• Nature genetics, 2015-01, Vol.47 (1), p.78-83

Ort / Verlag

New York: Nature Publishing Group US

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• Stéphanie Debette and colleagues report the results of a genome-wide association study of cervical artery dissection, a major cause of ischemic stroke in young adults. They show that common variation in PHACTR1 , previously associated with lower risk of migraine and increased risk of myocardial infarction, is associated with reduced risk of cervical artery dissection. 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 factors 1 , 2 , 3 , and inverse associations with obesity and hypercholesterolemia are described 3 , 4 . No confirmed genetic susceptibility factors have been identified using candidate gene approaches 5 . 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 6 , 7 , 8 , 9 . Deciphering the mechanisms underlying this pleiotropy might provide important information on the biological underpinnings of these disabling conditions.