2022
Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease
Khera AV, Wang M, Chaffin M, Emdin CA, Samani NJ, Schunkert H, Watkins H, McPherson R, Erdmann J, Elosua R, Boerwinkle E, Ardissino D, Butterworth A, Di Angelantonio E, Naheed A, Danesh J, Chowdhury R, Krumholz H, Sheu W, Rich S, Rotter J, Chen Y, Gabriel S, Lander E, Saleheen D, Kathiresan S. Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease. Circulation Genomic And Precision Medicine 2022, 15: e003598. PMID: 36215124, PMCID: PMC9771961, DOI: 10.1161/circgen.121.003598.Peer-Reviewed Original ResearchMeSH KeywordsCholesterolCoronary Artery DiseaseHumansHypercholesterolemiaNitric OxidePolymorphism, GeneticConceptsMolecular subtypesCAD riskHigher systolic blood pressureCoronary artery disease patientsEndothelial nitric oxide synthase geneDamaging missense variantsRisk of CADSystolic blood pressureCoronary artery diseaseRisk of hypertensionNitric oxide synthase geneMissense variantsNitric oxide synthesisRare variantsOxide synthase geneDiscrete molecular subtypesNitric Oxide SignalingLow density lipoprotein receptor geneArtery diseaseBlood pressureEndothelial functionVascular toneDisease patientsCAD casesCholesterol concentrations
2003
Overestimation of genetic risks owing to small sample sizes in cardiovascular studies
Morgan T, Coffey C, Krumholz H. Overestimation of genetic risks owing to small sample sizes in cardiovascular studies. Clinical Genetics 2003, 64: 7-17. PMID: 12791034, DOI: 10.1034/j.1399-0004.2003.00088.x.Peer-Reviewed Original ResearchMeSH KeywordsCardiovascular DiseasesGenetic Predisposition to DiseaseHumansPolymorphism, GeneticResearch DesignRisk AssessmentSample SizeConceptsACE DMyocardial infarctionRisk factorsPublication biasEnzyme deletion polymorphismStudies of angiotensinThrombotic risk factorsGenetic risk factorsPotential publication biasCardiovascular outcomesPlA2 polymorphismOdds ratioEgger's testFunnel plotSystematic reviewCardiovascular studiesRelevant outcomesOverall riskSmall sample sizeGenetic riskSample sizeDeletion polymorphismUnderpowered studiesInfarctionPLA2