2023
TP53-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
2021
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection
Zekavat SM, Lin SH, Bick AG, Liu A, Paruchuri K, Wang C, Uddin MM, Ye Y, Yu Z, Liu X, Kamatani Y, Bhattacharya R, Pirruccello JP, Pampana A, Loh PR, Kohli P, McCarroll SA, Kiryluk K, Neale B, Ionita-Laza I, Engels EA, Brown DW, Smoller JW, Green R, Karlson EW, Lebo M, Ellinor PT, Weiss ST, Daly MJ, Terao C, Zhao H, Ebert B, Reilly M, Ganna A, Machiela M, Genovese G, Natarajan P. Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection. Nature Medicine 2021, 27: 1012-1024. PMID: 34099924, PMCID: PMC8245201, DOI: 10.1038/s41591-021-01371-0.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overAgingBiological Specimen BanksChromosome AberrationsCommunicable DiseasesDigestive System DiseasesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHematologic NeoplasmsHumansMaleMiddle AgedMosaicismPneumoniaRisk FactorsSepsisUrogenital AbnormalitiesYoung AdultConceptsMosaic chromosomal alterationsLeukocyte cell countDominant risk factorChromosomal alterationsBlood-derived DNAInfectious disease riskIncident infectionsSystem infectionGenitourinary infectionsImmune cellsRisk factorsHematological malignanciesHematological cancersCell countDisease riskInfectionInfectious diseasesClonal hematopoiesisSomatic variantsAgeRiskAlterationsWide association studyAutosomal mosaic chromosomal alterationsAssociation studies