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
2019
Higher urinary cortisol levels associate with increased cardiovascular risk
Haas AV, Hopkins PN, Brown NJ, Pojoga LH, Williams JS, Adler GK, Williams GH. Higher urinary cortisol levels associate with increased cardiovascular risk. Endocrine Connections 2019, 8: 634-640. PMID: 31018177, PMCID: PMC6528405, DOI: 10.1530/ec-19-0182.Peer-Reviewed Original ResearchFramingham risk scoreCardiovascular riskRisk allele carriersRisk scoreAllele carriersCortisol groupCortisol levelsHigher urinary cortisol levelsUrine free cortisolNon-risk allele carriersNon-diabetic individualsBlood pressure measurementsCross-sectional studyRisk allele statusUrinary cortisol levelsIndependent predictorsUrinary cortisolBlood samplesDiscordant findingsLarger sample sizeMultivariate analysisAllele statusCortisol collectionRisk allelesSample size
2015
A prevalent caveolin-1 gene variant is associated with the metabolic syndrome in Caucasians and Hispanics
Baudrand R, Goodarzi MO, Vaidya A, Underwood PC, Williams JS, Jeunemaitre X, Hopkins PN, Brown N, Raby BA, Lasky-Su J, Adler GK, Cui J, Guo X, Taylor KD, Chen YD, Xiang A, Raffel LJ, Buchanan TA, Rotter JI, Williams GH, Pojoga LH. A prevalent caveolin-1 gene variant is associated with the metabolic syndrome in Caucasians and Hispanics. Metabolism 2015, 64: 1674-1681. PMID: 26475177, PMCID: PMC4641791, DOI: 10.1016/j.metabol.2015.09.005.Peer-Reviewed Original ResearchConceptsMinor allele carriersAllele carriersMetabolic syndromeInsulin resistanceHigher oddsHigher Framingham risk scoreFramingham risk scoreGene variantsNon-obese subjectsMinor allele carrier statusAllele carrier statusHyperPATH cohortLow HDLMetS diagnosisMetS riskObese subjectsMulticenter studyObesity statusSimilar BMIRisk scoreHispanic cohortClinical implicationsHispanic participantsCohortCarrier status