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
2015
A Heritable Missense Polymorphism in CDKN2A Confers Strong Risk of Childhood Acute Lymphoblastic Leukemia and Is Preferentially Selected during Clonal Evolution
Walsh KM, de Smith AJ, Hansen HM, Smirnov IV, Gonseth S, Endicott AA, Xiao J, Rice T, Fu CH, McCoy LS, Lachance DH, Eckel-Passow JE, Wiencke JK, Jenkins RB, Wrensch MR, Ma X, Metayer C, Wiemels JL. A Heritable Missense Polymorphism in CDKN2A Confers Strong Risk of Childhood Acute Lymphoblastic Leukemia and Is Preferentially Selected during Clonal Evolution. Cancer Research 2015, 75: 4884-4894. PMID: 26527286, PMCID: PMC4651745, DOI: 10.1158/0008-5472.can-15-1105.Peer-Reviewed Original ResearchConceptsAcute lymphoblastic leukemiaChildhood acute lymphoblastic leukemiaLymphoblastic leukemiaCancer riskRisk allelesGeneral cancer riskPancreatic cancer riskGenome-wide association studiesCase-control populationCDKN2A variantsProtective allelesTumor growthClonal expansionChromosome 9p21.3Hispanic childrenMissense polymorphismStrong riskMissense variantsClonal evolutionRiskLeukemiaTumorsAllelic imbalanceEuropean ancestryPolymorphism