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
2020
Genetic Determinants of Blood Cell Traits Play a Role in Susceptibility to Acute Lymphoblastic Leukemia
Kachuri L, Jeon S, DeWan A, Metayer C, Witte J, Ma X, Chiang C, Wiemels J, de Smith A. Genetic Determinants of Blood Cell Traits Play a Role in Susceptibility to Acute Lymphoblastic Leukemia. Blood 2020, 136: 10-11. DOI: 10.1182/blood-2020-141443.Peer-Reviewed Original ResearchGenome-wide association studiesBlood cell traitsLD score regressionTrait variationTwo-stage genome-wide association studyGenome-wide single nucleotide polymorphism (SNP) dataGenome-wide SNP dataTrait-specific lociScore regressionSingle nucleotide polymorphism dataNucleotide polymorphism dataLikely causal variantsEuropean ancestryCell type ratiosEuropean ancestry individualsMulti-trait analysisUK BiobankGenetic variationPolymorphism dataGenetic basisSNP dataCausal variantsPutative novelRisk lociGenetic level