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

https://arctichealth.org/en/permalink/ahliterature261062
Source
Nat Genet. 2015 Jan;47(1):78-83
Publication Type
Article
Date
Jan-2015
Author
Stéphanie Debette
Yoichiro Kamatani
Tiina M Metso
Manja Kloss
Ganesh Chauhan
Stefan T Engelter
Alessandro Pezzini
Vincent Thijs
Hugh S Markus
Martin Dichgans
Christiane Wolf
Ralf Dittrich
Emmanuel Touzé
Andrew M Southerland
Yves Samson
Shérine Abboud
Yannick Béjot
Valeria Caso
Anna Bersano
Andreas Gschwendtner
Maria Sessa
John Cole
Chantal Lamy
Elisabeth Medeiros
Simone Beretta
Leo H Bonati
Armin J Grau
Patrik Michel
Jennifer J Majersik
Pankaj Sharma
Ludmila Kalashnikova
Maria Nazarova
Larisa Dobrynina
Eva Bartels
Benoit Guillon
Evita G van den Herik
Israel Fernandez-Cadenas
Katarina Jood
Michael A Nalls
Frank-Erik De Leeuw
Christina Jern
Yu-Ching Cheng
Inge Werner
Antti J Metso
Christoph Lichy
Philippe A Lyrer
Tobias Brandt
Giorgio B Boncoraglio
Heinz-Erich Wichmann
Christian Gieger
Andrew D Johnson
Thomas Böttcher
Maurizio Castellano
Dominique Arveiler
M Arfan Ikram
Monique M B Breteler
Alessandro Padovani
James F Meschia
Gregor Kuhlenbäumer
Arndt Rolfs
Bradford B Worrall
Erich-Bernd Ringelstein
Diana Zelenika
Turgut Tatlisumak
Mark Lathrop
Didier Leys
Philippe Amouyel
Jean Dallongeville
Source
Nat Genet. 2015 Jan;47(1):78-83
Date
Jan-2015
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Brain Ischemia - epidemiology - genetics
Carotid Artery, Internal, Dissection - epidemiology - genetics
Female
Finland - epidemiology
Follow-Up Studies
Genetic Pleiotropy
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Hypercholesterolemia - epidemiology
Hypertension - epidemiology
Male
Microfilament Proteins - genetics - physiology
Middle Aged
Migraine Disorders - epidemiology
Myocardial Infarction - epidemiology
Obesity - epidemiology
Odds Ratio
Polymorphism, Single Nucleotide
Risk factors
Vertebral Artery Dissection - epidemiology - genetics
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 ID
25420145 View in PubMed
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