6533b837fe1ef96bd12a1e6e
RESEARCH PRODUCT
Common variation in PHACTR1 is associated with susceptibility to cervical artery dissection
Stéphanie DebetteYoichiro KamataniChristiane WolfEnrico Agabiti RoseiSilvia LanfranconiCarlo FerrareseEmanuela SusaniMilano BicoccaGiacomo GiacaloneStefano PaolucciRaffaele PalmirottaMaurizio PaciaroniElena BallabioRalf DittrichEugenio A ParatiEmilio CiusaniFelix FluriFlorian HatzDominique GislerMargareth AmortSteve BevanTom JamesSandra OlssonLukas HolmegaardEmmanuel TouzéAyse AltintasJuan José MartinSteven KittnerBraxton MitchellColin StineJeff O'connellNicole DuekerPeter J KoudstaalLonneke M L De LauAlbert HofmanAndrew M SoutherlandBenjamin F VerhaarenAndre G UitterlindenJoan MontanerMaite MendiorozSunaina YadavMuhammad Saleem KhanMichael WilderEwoud Van DijkNoortje MaaijweeLoes Rutten-jacobsYves SamsonJamie KramerShaneela MalikThomas G BrottRobert D BrownAndrew SingletonJohn HardyStephen S RichChristian TanislavJan JungehülsingShérine AbboudYannick BéjotValeria CasoAnna BersanoAndreas GschwendtnerTiina M MetsoMaria SessaJohn ColeChantal LamyElisabeth MedeirosSimone BerettaLeo H BonatiArmin J GrauPatrik MichelJennifer J MajersikPankaj SharmaManja KlossLudmila KalashnikovaMaria NazarovaLarisa DobryninaEva BartelsBenoit GuillonEvita G Van Den HerikIsrael Fernandez-cadenasKatarina JoodMichael A NallsFrank-erik De LeeuwGanesh ChauhanChristina JernYu-ching ChengInge WernerAntti J MetsoChristoph LichyPhilippe A LyrerTobias BrandtGiorgio B BoncoraglioHeinz-erich WichmannChristian GiegerStefan T EngelterAndrew D JohnsonThomas BöttcherMaurizio CastellanoDominique ArveilerM Arfan IkramMonique M.b. BretelerAlessandro PadovaniJames F MeschiaGregor KuhlenbäumerArndt RolfsAlessandro PezziniBradford B WorrallInternational Stroke Genetics ConsortiumErich-bernd RingelsteinDiana ZelenikaTurgut TatlisumakMark LathropDidier LeysPhillippe AmouyelJean DallongevilleCadisp GroupVincent ThijsRobin LemmensMassimo PandolfoMarie BodenantFabien LouilletJean-louis MasSandrine DeltourSara LederAnne LégerSandrine CanapleOlivier GodefroyHugh S MarkusMaurice GiroudAgnès JacquinThierry MoulinFabrice VullierChristophe TzourioMichael Dos SantosRainer MalikIngrid HausserConstanze Thomas-felesRalf WeberMartin DichgansCaspar Grond-ginsbachWerner HackeAlessia GiossiIrene VolonghiPaolo CostaElisabetta Del ZottoAndrea MorottiLoris PoliMaria Lorenza MuiesanMassimo Salvettisubject
Male[SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/Imaging[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyMyocardial InfarctionGenome-wide association studyCarotid Artery Internal DissectionGastroenterologyepidemiology [Carotid Artery Internal Dissection]Brain Ischemia0302 clinical medicineMigraine DisorderOdds RatioFinlandVertebral Artery Dissection0303 health scienceseducation.field_of_studyepidemiology [Hypercholesterolemia]MESH: Middle AgedMESH: Polymorphism Single NucleotidePhactr-1 protein humanMESH: Brain IschemiaMESH: Follow-Up Studies3. Good healthMESH: Myocardial InfarctionHumanmedicine.medical_specialtyMigraine DisordersHypercholesterolemiaMESH: Vertebral Artery DissectionLower riskgenetics [Brain Ischemia]ArticleFollow-Up StudieMESH: Carotid Artery Internal Dissection03 medical and health sciencesGeneticSDG 3 - Good Health and Well-beinggenetics [Carotid Artery Internal Dissection]GeneticsGenetic predispositionepidemiology [Brain Ischemia]Humansepidemiology [Vertebral Artery Dissection]PolymorphismeducationAllelesMESH: Humansgenetics [Vertebral Artery Dissection]MESH: AdultOdds ratioMicrofilament Proteinmedicine.diseaseAdult; 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 NucleotideMESH: Genome-Wide Association StudyCarotid ArteryMESH: Female030217 neurology & neurosurgeryepidemiology [Finland]Cervical ArteryVertebral artery dissectionepidemiology [Hypertension]MESH: HypertensionRisk FactorsMESH: Risk FactorsMESH: ObesityStrokeAlleleGeneticsDissectionMESH: FinlandMicrofilament ProteinsMESH: Genetic Predisposition to DiseaseMESH: HypercholesterolemiaGenetic PleiotropySingle NucleotideMiddle AgedMESH: Migraine DisordersDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]epidemiology [Myocardial Infarction][INFO.INFO-TI]Computer Science [cs]/Image Processing [eess.IV]HypertensionFemale[SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processingAdultPopulationMESH: Genetic Pleiotropyphysiology [Microfilament Proteins]BiologyPolymorphism Single NucleotideMESH: Microfilament ProteinsInternal medicineddc:570medicine[INFO.INFO-IM]Computer Science [cs]/Medical ImagingGenetic Predisposition to DiseaseObesity030304 developmental biologyepidemiology [Obesity]Risk FactorMESH: Alleles[INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV]InternalMESH: Odds RatioMESH: Maleepidemiology [Migraine Disorders]genetics [Microfilament Proteins]Follow-Up StudiesGenome-Wide Association Studydescription
Item does not contain fulltext 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 x 10(-10)), with confirmation in independent follow-up samples (659 CeAD cases and 2,648 controls; P = 3.91 x 10(-3); combined P = 1.00 x 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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2014-12-31 |