2020
Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker–Induced Angioedema
Maroteau C, Siddiqui M, Veluchamy A, Carr F, White M, Cassidy AJ, Baranova EV, Rasmussen ER, Eriksson N, Bloch KM, Brown NJ, Bygum A, Hallberg P, Karawajczyk M, Magnusson PKE, Yue Q, Syvänen A, von Buchwald C, Alfirevic A, der Zee A, Wadelius M, Palmer CNA, PREDICTION‐ADR. Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker–Induced Angioedema. Clinical Pharmacology & Therapeutics 2020, 108: 1195-1202. PMID: 32496628, PMCID: PMC10306231, DOI: 10.1002/cpt.1927.Peer-Reviewed Original ResearchMeSH KeywordsAgedAngioedemaAngiotensin Receptor AntagonistsAngiotensin-Converting Enzyme InhibitorsCase-Control StudiesDNA Mutational AnalysisEuropeExomeExome SequencingFactor VFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedMutation RateMutation, MissenseRisk AssessmentRisk FactorsUnited StatesConceptsAngiotensin receptor blockersACEi-AEReceptor blockersLife-threatening adverse reactionsMissense variantsRare variantsCommon variantsRare missense variantsGene risk scoreACE inhibitorsAdverse reactionsDeleterious missense variantsHigh riskRisk scoreAngioedemaEnzyme inhibitorsNeck regionExome sequencingAsian populationsDifferent centersBlood clottingBlockersF5 geneRiskInhibitors
2004
Functional Variant of CYP4A11 20-Hydroxyeicosatetraenoic Acid Synthase Is Associated With Essential Hypertension
Gainer JV, Bellamine A, Dawson EP, Womble KE, Grant SW, Wang Y, Cupples LA, Guo CY, Demissie S, O’Donnell C, Brown NJ, Waterman MR, Capdevila JH. Functional Variant of CYP4A11 20-Hydroxyeicosatetraenoic Acid Synthase Is Associated With Essential Hypertension. Circulation 2004, 111: 63-69. PMID: 15611369, DOI: 10.1161/01.cir.0000151309.82473.59.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAllelesAmino Acid SubstitutionArachidonic AcidBlack PeopleBlood PressureCodonCohort StudiesComorbidityCytochrome P-450 CYP4ACytochrome P-450 Enzyme SystemDNA Mutational AnalysisFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenotypeHumansHydroxyeicosatetraenoic AcidsHypertensionIntronsKidneyLauric AcidsMaleMiddle AgedMultifactorial InheritanceMutagenesis, InsertionalMutation, MissensePoint MutationSequence DeletionTennesseeUnited StatesWhite PeopleConceptsArachidonic acidORs of hypertensionBlood pressure controlBody mass indexEndogenous arachidonic acidLarge population databaseFramingham Heart StudySevere hypertensionEssential hypertensionHypertension comorbidityTubular functionHypertensive statusMass indexFunctional variantsHypertensionHeart StudyPressure controlCYP4A11Polygenic determinantsPopulation databaseTargeted disruptionHuman CYP4A11Acid synthaseAssociationSynthase activity