DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Cervical artery dissection. The EFO term cervical artery dissection was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: cervical artery dissection

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

S Debette, Y Kamatani, TM Metso, M Kloss, G Chauhan, ST Engelter, A Pezzini, V Thijs, HS Markus, M Dichgans, C Wolf, R Dittrich, E Touzé, AM Southerland, Y Samson, S Abboud, Y Béjot, V Caso, A Bersano, A Gschwendtner, M Sessa, J Cole, C Lamy, E Medeiros, S Beretta, LH Bonati, AJ Grau, P Michel, JJ Majersik, P Sharma, L Kalashnikova, M Nazarova, L Dobrynina, E Bartels, B Guillon, EG van den Herik, I Fernandez-Cadenas, K Jood, MA Nalls, FE De Leeuw, C Jern, YC Cheng, I Werner, AJ Metso, C Lichy, PA Lyrer, T Brandt, GB Boncoraglio, HE Wichmann, C Gieger, AD Johnson, T Böttcher, M Castellano, D Arveiler, MA Ikram, MM Breteler, A Padovani, JF Meschia, G Kuhlenbäumer, A Rolfs, BB Worrall, EB Ringelstein, D Zelenika, T Tatlisumak, M Lathrop, D Leys, P Amouyel, J Dallongeville

TITLE:

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

JOURNAL:

Nature genetics Jan 2015, Vol 47, pp. 78-83

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: 25420145
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