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To identify risk variants for childhood acute lymphoblastic leukemia (ALL), we conducted a genome-wide association study of two case-control series, analyzing the genotypes with respect to 291,423 tagging SNPs in a total of 907 ALL cases and 2,398 controls. We identified risk loci for ALL at 7p12.2 (IKZF1, rs4132601, odds ratio (OR) = 1.69, P = 1.20 x 10(-19)), 10q21.2 (ARID5B, rs7089424, OR = 1.65, P = 6.69 x 10(-19)) and 14q11.2 (CEBPE, rs2239633, OR = 1.34, P = 2.88 x 10(-7)). The 10q21.2 (ARID5B) risk association appears to be selective for the subset of B-cell precursor ALL with hyperdiploidy. These data show that common low-penetrance susceptibility alleles contribute to the risk of developing childhood ALL and provide new insight into disease causation of this specific hematological cancer. Notably, all three risk variants map to genes involved in transcriptional regulation and differentiation of B-cell progenitors.

Original publication




Journal article


Nat Genet

Publication Date





1006 - 1010


Alleles, Base Pairing, Base Sequence, CCAAT-Enhancer-Binding Proteins, Case-Control Studies, Child, Child, Preschool, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 14, Chromosomes, Human, Pair 7, Confidence Intervals, DNA-Binding Proteins, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Haplotypes, Humans, Ikaros Transcription Factor, Introns, Linkage Disequilibrium, Meta-Analysis as Topic, Molecular Sequence Data, Odds Ratio, Physical Chromosome Mapping, Polymorphism, Single Nucleotide, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Probability, Recombination, Genetic, Risk Factors, Transcription Factors