0000000000851922

AUTHOR

Andrew Singleton

showing 2 related works from this author

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

2014

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…

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 Study
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Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

2015

Contains fulltext : 155360.pdf (Publisher’s version ) (Closed access) Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and b…

INVOLVEMENTNetherlands Twin Register (NTR)GCKR protein humanPROTEINGenome-wide association studyVARIANTSgenetics [Brain-Derived Neurotrophic Factor]chemistry.chemical_compound0302 clinical medicinePolymorphism (computer science)genetics [Adaptor Proteins Signal Transducing]BINDINGBRAINGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]3. Good healthPsychiatry and Mental healthPhenotypegenetics [Polymorphism Single Nucleotide]/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beinggenetics [Cytochrome P-450 CYP1A2]CaffeineCAFFEINESingle-nucleotide polymorphismBiologyArticle03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCytochrome P-450 CYP1A2/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_SNPHumansddc:610Allelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Molecular Biology030304 developmental biologyAdaptor Proteins Signal TransducingMLXIPL protein humanRECEPTORBrain-Derived Neurotrophic FactorCoffeata1182Feeding Behaviorbiology.organism_classificationta3124BDNFchemistryBehavioral medicineDevelopmental Psychopathology030217 neurology & neurosurgeryGLUCOKINASEmetabolism [Coffea]Genome-Wide Association StudyMolecular Psychiatry
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