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 ResearchMeSH KeywordsDatabases, GeneticDiabetes Mellitus, Type 2DiseaseGene FrequencyGenetic TestingGenetic VariationHumansObesityPhenotypeProteinsRespiratory HypersensitivityUnited KingdomConceptsPLOF 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