2024
A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children
de Smith A, Wahlster L, Jeon S, Kachuri L, Black S, Langie J, Cato L, Nakatsuka N, Chan T, Xia G, Mazumder S, Yang W, Gazal S, Eng C, Hu D, Burchard E, Ziv E, Metayer C, Mancuso N, Yang J, Ma X, Wiemels J, Yu F, Chiang C, Sankaran V. A noncoding regulatory variant in IKZF1 increases acute lymphoblastic leukemia risk in Hispanic/Latino children. Cell Genomics 2024, 4: 100526. PMID: 38537633, PMCID: PMC11019360, DOI: 10.1016/j.xgen.2024.100526.Peer-Reviewed Original ResearchHispanic/Latino childrenNon-Hispanic White individualsHigher risk of acute lymphoblastic leukemiaRisk of acute lymphoblastic leukemiaNoncoding regulatory variantsFine-mapping analysisAcute lymphoblastic leukemia riskAcute lymphoblastic leukemiaEvidence of selectionIndigenous American ancestryReduced enhancer activityRisk allele frequenciesIncreased ALL riskRegulatory variantsHispanic/Latino individualsPro-B cellsHispanic/Latino populationRacial/ethnic groupsDownstream enhancerGenetic basisLeukemia riskWhite individualsAllele frequenciesAmerican ancestryALL risk
2019
Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome
Brown AL, de Smith AJ, Gant VU, Yang W, Scheurer ME, Walsh KM, Chernus JM, Kallsen NA, Peyton SA, Davies GE, Ehli EA, Winick N, Heerema NA, Carroll AJ, Borowitz MJ, Wood BL, Carroll WL, Raetz EA, Feingold E, Devidas M, Barcellos LF, Hansen HM, Morimoto L, Kang AY, Smirnov I, Healy J, Laverdière C, Sinnett D, Taub JW, Birch JM, Thompson P, Spector LG, Pombo-de-Oliveira MS, DeWan AT, Mullighan CG, Hunger SP, Pui CH, Loh ML, Zwick ME, Metayer C, Ma X, Mueller BA, Sherman SL, Wiemels JL, Relling MV, Yang JJ, Lupo PJ, Rabin KR. Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome. Blood 2019, 134: 1227-1237. PMID: 31350265, PMCID: PMC6788009, DOI: 10.1182/blood.2018890764.Peer-Reviewed Original ResearchMeSH KeywordsChildCyclin-Dependent Kinase Inhibitor p16DNA-Binding ProteinsDown SyndromeGATA3 Transcription FactorGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansIkaros Transcription FactorPolymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaTranscription FactorsConceptsFirst genome-wide association studySusceptibility lociGenome-wide association studiesGenome-wide significanceFurther biological insightsGenetic variationEnhancer activityRisk lociBiological insightsLymphoblastoid cell linesAssociation studiesDifferential protein bindingFunctional significanceLociRisk allele frequenciesCell linesAllele frequenciesHigh penetranceRisk allelesProtein bindingCDKN2AGenetic susceptibilityHigher proliferationPenetranceAllele associations