2018
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease
Emdin CA, Khera AV, Chaffin M, Klarin D, Natarajan P, Aragam K, Haas M, Bick A, Zekavat SM, Nomura A, Ardissino D, Wilson JG, Schunkert H, McPherson R, Watkins H, Elosua R, Bown MJ, Samani NJ, Baber U, Erdmann J, Gupta N, Danesh J, Chasman D, Ridker P, Denny J, Bastarache L, Lichtman JH, D’Onofrio G, Mattera J, Spertus JA, Sheu W, Taylor KD, Psaty BM, Rich SS, Post W, Rotter JI, Chen YI, Krumholz H, Saleheen D, Gabriel S, Kathiresan S. Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. Nature Communications 2018, 9: 1613. PMID: 29691411, PMCID: PMC5915445, DOI: 10.1038/s41467-018-03911-8.Peer-Reviewed Original ResearchConceptsPLOF variantsProtein-coding genetic variantsFunction variantsCoronary artery diseaseBody fat distributionType 2 diabetesEssential splice siteProtein functionEffector transcriptsUK Biobank participantsIdentifies variantsStop codonMetabolic traitsArtery diseaseSplice siteAllergic diseasesAssociation analysisCardiometabolic diseasesAdditional diseaseFat distributionGenetic variantsBiobank participantsDiseaseBiological effectsVariants
2011
Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome
Morgan TM, House JA, Cresci S, Jones P, Allayee H, Hazen SL, Patel Y, Patel RS, Eapen DJ, Waddy SP, Quyyumi AA, Kleber ME, März W, Winkelmann BR, Boehm BO, Krumholz HM, Spertus JA. Investigation of 95 variants identified in a genome-wide study for association with mortality after acute coronary syndrome. BMC Medical Genomics 2011, 12: 127. PMID: 21957892, PMCID: PMC3190329, DOI: 10.1186/1471-2350-12-127.Peer-Reviewed Original ResearchMeSH KeywordsAcute Coronary SyndromeAgedAged, 80 and overAminohydrolasesCohort StudiesFemaleFormate-Tetrahydrofolate LigaseGenetic VariationGenome-Wide Association StudyGenotypeHumansKaplan-Meier EstimateMaleMethylenetetrahydrofolate Dehydrogenase (NADP)Middle AgedMultienzyme ComplexesMyocardial InfarctionPolymorphism, Single NucleotideProportional Hazards ModelsRisk FactorsWhite PeopleConceptsAcute coronary syndromeCoronary syndromeCoronary artery disease patientsKaplan-Meier survival analysisACS risk factorsCoronary artery diseaseUniversity-affiliated hospitalMyocardial infarction patientsPremature myocardial infarctionRace-adjusted analysesACS mortalityArtery diseaseCox regressionBorderline significanceDisease patientsInfarction patientsMyocardial infarctionRisk factorsMortality hazardIndependent cohortSurvival analysisDiverse cohortPatientsRelevant covariatesBackgroundGenome-wide association studies