Featured Publications
Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease
Xie Y, Jiang W, Dong W, Li H, Jin SC, Brueckner M, Zhao H. Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease. PLOS Genetics 2022, 18: e1010252. PMID: 35671298, PMCID: PMC9205499, DOI: 10.1371/journal.pgen.1010252.Peer-Reviewed Original Research
2023
Profilin1 is required to prevent mitotic catastrophe in murine and human glomerular diseases
Tian X, Pedigo C, Li K, Ma X, Bunda P, Pell J, Lek A, Gu J, Zhang Y, Rangel P, Li W, Schwartze E, Nagata S, Lerner G, Perincheri S, Priyadarshini A, Zhao H, Lek M, Menon M, Fu R, Ishibe S. Profilin1 is required to prevent mitotic catastrophe in murine and human glomerular diseases. Journal Of Clinical Investigation 2023, 133: e171237. PMID: 37847555, PMCID: PMC10721156, DOI: 10.1172/jci171237.Peer-Reviewed Original ResearchConceptsProteinuric kidney diseaseKidney diseasePodocyte lossHuman glomerular diseasesMitotic catastrophePodocyte cell cycleSevere proteinuriaCell cycle reentryKidney failureGlomerular diseaseCell cycleKidney tissueG1/S checkpointUnsuccessful repairCyclin D1Glomerular integrityIrregular nucleiTissue-specific lossMouse podocytesPodocytesAltered expressionDiseaseCyclin B1Ribosome affinity purificationMultinucleated cellsTP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease
Zekavat S, Viana-Huete V, Matesanz N, Jorshery S, Zuriaga M, Uddin M, Trinder M, Paruchuri K, Zorita V, Ferrer-Pérez A, Amorós-Pérez M, Kunderfranco P, Carriero R, Greco C, Aroca-Crevillen A, Hidalgo A, Damrauer S, Ballantyne C, Niroula A, Gibson C, Pirruccello J, Griffin G, Ebert B, Libby P, Fuster V, Zhao H, Ghassemi M, Natarajan P, Bick A, Fuster J, Klarin D. TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease. Nature Cardiovascular Research 2023, 2: 144-158. PMID: 36949957, PMCID: PMC10026701, DOI: 10.1038/s44161-022-00206-6.Peer-Reviewed Original ResearchPeripheral artery diseaseIncident peripheral artery diseaseArtery diseaseAtherosclerotic diseaseChimeric miceIncident atherosclerotic diseaseCoronary artery diseaseAortic plaque sizeAccumulation of macrophagesMass General Brigham BiobankEntire arterial systemWhole-exome sequencingDNA damage repair genesCause mortalityCoronary arteryHematologic malignanciesPlaque macrophagesClinical dataTransplantation strategiesArterial systemPlaque sizeAtherosclerosisClonal hematopoiesisDiseaseIndeterminate potential
2020
A comprehensive genetic and epidemiological association analysis of vitamin D with common diseases/traits in the UK Biobank
Ye Y, Yang H, Wang Y, Zhao H. A comprehensive genetic and epidemiological association analysis of vitamin D with common diseases/traits in the UK Biobank. Genetic Epidemiology 2020, 45: 24-35. PMID: 32918767, DOI: 10.1002/gepi.22357.Peer-Reviewed Original ResearchConceptsVitamin DPotential causal roleCausal roleAutoimmune/inflammatory diseasesMR analysisMendelian randomization analysisMultiple sclerosisFemur fracturesLeg fracturesInflammatory diseasesOvarian cancerEpidemiological associationMusculoskeletal diseasesMetabolic diseasesNeurological diseasesD concentrationsEpidemiological analysisDiseaseRandomization analysisUK BiobankSuch associationsCancerAssociationHealthDiseases/traits
2016
O1‐03‐01: Integrative Analysis of Gwas Summary Data and Functional Annotations Highlights Signal Enrichment in Immune‐Related DNA Elements for Late‐Onset Alzheimer’s Disease
Lu Q, Mukherjee S, Crane P, Zhao H. O1‐03‐01: Integrative Analysis of Gwas Summary Data and Functional Annotations Highlights Signal Enrichment in Immune‐Related DNA Elements for Late‐Onset Alzheimer’s Disease. Alzheimer's & Dementia 2016, 12: p176-p177. DOI: 10.1016/j.jalz.2016.06.304.Peer-Reviewed Original Research
2015
Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS
Wang Q, Yang C, Gelernter J, Zhao H. Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS. Human Genetics 2015, 134: 1195-1209. PMID: 26340901, PMCID: PMC4630076, DOI: 10.1007/s00439-015-1596-8.Peer-Reviewed Original ResearchMeSH KeywordsArthritis, RheumatoidCentral Nervous SystemCrohn DiseaseGenetic PleiotropyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansImmune System DiseasesMental DisordersNerve Tissue ProteinsOrgan SpecificityPolymorphism, Single NucleotideQuantitative Trait LociSchizophreniaSystems IntegrationConceptsImmune disordersPsychiatric disordersCrohn's diseaseDisorder pairsMHC regionPervasive pleiotropyIntegrative analysisGenome-wide association studiesImmune dysregulationImmunological mechanismsTreatment strategiesTraits/diseasesEpidemiological observationsPsychiatric diseasesBrain disordersSame effect directionDiseaseDisordersGenomic regionsRealm of psychiatryMost allelesStrong pleiotropyAnnotation resourcesChromosome 6Association studies