2022
Accelerated epigenetic aging in newborns with Down syndrome
Xu K, Li S, Muskens IS, Elliott N, Myint SS, Pandey P, Hansen HM, Morimoto LM, Kang AY, Ma X, Metayer C, Mueller BA, Roberts I, Walsh KM, Horvath S, Wiemels JL, de Smith A. Accelerated epigenetic aging in newborns with Down syndrome. Aging Cell 2022, 21: e13652. PMID: 35661546, PMCID: PMC9282838, DOI: 10.1111/acel.13652.Peer-Reviewed Original ResearchConceptsDown syndromeAge accelerationEpigenetic age accelerationGestational age accelerationEarly-onset Alzheimer's diseaseTransient abnormal myelopoiesisPotential confounding factorsEpigenetic agingPremature agingSomatic GATA1 mutationsDS patientsAbnormal myelopoiesisBlood cell proportionsNewbornsAlzheimer's diseaseConfounding factorsBrain tissueCell proportionGATA1 mutationsEndocrine systemBloodTargeted sequencingSomatic mutationsSyndromeDisease
2021
Epigenome-Wide Association Study of Acute Lymphoblastic Leukemia in Children with Down Syndrome
Li S, Sok P, Xu K, Muskens I, Elliott N, Myint S, Pandey P, Hansen H, Morimoto L, Kang A, Metayer C, Ma X, Mueller B, Roy A, Roberts I, Rabin K, Brown A, Lupo P, Wiemels J, de Smith A. Epigenome-Wide Association Study of Acute Lymphoblastic Leukemia in Children with Down Syndrome. Blood 2021, 138: 214. DOI: 10.1182/blood-2021-151454.Peer-Reviewed Original ResearchEpigenome-wide association studiesB cell proportionsAcute lymphoblastic leukemiaNon-DS populationCell type proportionsDNA methylation dataSingle nucleotide polymorphismsDS-ALLCell proportionAssociation studiesDS controlBlood cell proportionsLymphoblastic leukemiaMethylation dataGenome-wide DNA methylation arraysGenome-wide SNP array dataB-cell acute lymphoblastic leukemiaGenome-wide association studiesLeukemic stem cell functionsDiscovery studiesStem cell functionRecent genome-wide association studiesDNA methylation arraysEpigenome-wide significanceNatural killer cells
2019
The Genome-Wide Impact of Trisomy 21 on DNA Methylation and Its Implications for Hematologic Malignancies
Wiemels J, Muskens I, Li S, Pandey P, Roy R, Hansen H, Siegmund K, Mueller B, Ma X, Metayer C, de Smith A. The Genome-Wide Impact of Trisomy 21 on DNA Methylation and Its Implications for Hematologic Malignancies. Blood 2019, 134: 2510. DOI: 10.1182/blood-2019-131455.Peer-Reviewed Original ResearchTransient abnormal myelopoiesisNon-DS subjectsDS neonatesDown syndromeTrisomy 21Hematopoietic stem cellsBlood cell proportionsT cellsHigher CD8 T cellsCell proportionEpigenome-wide association studiesMean beta valueNon-DS controlsCD8 T cellsCD4 T cellsLow B cellsAcute lymphoblastic leukemiaAcute megakaryoblastic leukemiaMulti-Ethnic StudyNeonatal DNA methylationEthnicity-stratified analysisSignificant DMRsIllumina Infinium MethylationEPIC arrayChromosome 21Non-Latino whites