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 factors1-3, and inverse associations with obesity and hypercholesterolemia are described3,4. No confirmed genetic susceptibility factors have been identified using candidate gene approaches5. 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 infarction6-9. Deciphering the mechanisms underlying this pleiotropy might provide important information on the.

Debette, S., Kamatani, Y., Metso, T., Kloss, M., Chauhan, G., Engelter, S., et al. (2015). Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. NATURE GENETICS, 47(1), 78-83 [10.1038/ng.3154].

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

BERETTA, SIMONE;Boncoraglio, G;FERRARESE, CARLO
2015

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)1. Minor cervical traumas, infection, migraine and hypertension are putative risk factors1-3, and inverse associations with obesity and hypercholesterolemia are described3,4. No confirmed genetic susceptibility factors have been identified using candidate gene approaches5. 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 infarction6-9. Deciphering the mechanisms underlying this pleiotropy might provide important information on the.
Articolo in rivista - Articolo scientifico
Adult; Brain Ischemia; Carotid Artery, Internal, Dissection; Female; Finland; Follow-Up Studies; Genetic Pleiotropy; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Hypercholesterolemia; Hypertension; Male; Microfilament Proteins; Middle Aged; Migraine Disorders; Myocardial Infarction; Obesity; Odds Ratio; Risk Factors; Vertebral Artery Dissection; Alleles; Polymorphism, Single Nucleotide; Genetics;
English
2015
47
1
78
83
none
Debette, S., Kamatani, Y., Metso, T., Kloss, M., Chauhan, G., Engelter, S., et al. (2015). Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. NATURE GENETICS, 47(1), 78-83 [10.1038/ng.3154].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/152382
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