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
2007
Functional BSND Variants in Essential Hypertension*
Sile S, Gillani NB, Velez DR, Vanoye CG, Yu C, Byrne LM, Gainer JV, Brown NJ, Williams SM, George AL. Functional BSND Variants in Essential Hypertension*. American Journal Of Hypertension 2007, 20: 1176-1182. PMID: 17954364, DOI: 10.1016/j.amjhyper.2007.07.003.Peer-Reviewed Original ResearchConceptsThick ascending limbControl populationNormotensive control populationSodium chloride reabsorptionClC-Kb chloride channelsBlood pressure regulationLogistic regression analysisRenal salt reabsorptionChloride channelsNormotensive populationEssential hypertensionChloride reabsorptionHomogenous cohortStudy populationHypertensionAscending limbGhanaian subjectsSalt reabsorptionHispanic subjectsClC-KbCaucasian populationPartial lossSingle nucleotide polymorphismsRegression analysisRare variants