RGD Reference Report - Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection. - Rat Genome Database

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

Authors: 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  International Stroke Genetics Consortium,   Ringelstein, Erich-Bernd  Zelenika, Diana  Tatlisumak, Turgut  Lathrop, Mark  Leys, Didier  Amouyel, Philippe  Dallongeville, Jean  CADISP Group,  
Citation: Debette S, etal., Nat Genet. 2015 Jan;47(1):78-83. doi: 10.1038/ng.3154. Epub 2014 Nov 24.
RGD ID: 401900170
Pubmed: PMID:25420145   (View Abstract at PubMed)
PMCID: PMC5824623   (View Article at PubMed Central)
DOI: DOI:10.1038/ng.3154   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PHACTR1HumanARTERIAL DISSECTION susceptibilityIAGP DNA:SNP:intron:g.13 more ...RGD 
Phactr1RatARTERIAL DISSECTION susceptibilityISOPHACTR1 (Homo sapiens)DNA:SNP:intron:g.13 more ...RGD 
Phactr1MouseARTERIAL DISSECTION susceptibilityISOPHACTR1 (Homo sapiens)DNA:SNP:intron:g.13 more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PHACTR1HumanArterial dissection susceptibilityIAGP DNA:SNP:intron:g.13 more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Phactr1  (phosphatase and actin regulator 1)

Genes (Mus musculus)
Phactr1  (phosphatase and actin regulator 1)

Genes (Homo sapiens)
PHACTR1  (phosphatase and actin regulator 1)


Additional Information