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
2008
Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome
Morgan TM, Xiao L, Lyons P, Kassebaum B, Krumholz HM, Spertus JA. Investigation of 89 candidate gene variants for effects on all-cause mortality following acute coronary syndrome. BMC Medical Genomics 2008, 9: 66. PMID: 18620593, PMCID: PMC2483267, DOI: 10.1186/1471-2350-9-66.Peer-Reviewed Original ResearchConceptsAcute coronary syndromeRisk factorsACS mortalityCoronary syndromeTraditional cardiac risk factorsKaplan-Meier survival analysisMultivariate risk prediction modelCardiac risk factorsPutative genetic risk factorsGene variantsUniversity-affiliated hospitalBorderline statistical significanceGenetic risk factorsSystematic literature searchRisk prediction modelGenetic variantsCandidate gene variantsACS survivorsCause mortalityACS casesCox regressionPatient cohortClinical prognosisPotential confoundingSurvival analysis