Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform a GWAS and conduct a meta-analysis with two existing GWAS, totaling 2442 cases and 14,609 controls. We identify risk loci for BCP-ALL at 8q24.21 (rs28665337, P = 3.86 × 10-9, odds ratio (OR) = 1.34) and for ETV6-RUNX1 fusion-positive BCP-ALL at 2q22.3 (rs17481869, P = 3.20 × 10-8, OR = 2.14). Our findings provide further insights into genetic susceptibility to ALL and its biology.

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Contributor The PRACTICAL Consortium
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Journal Nature Communications
Vijayakrishnan, J. (Jayaram), Studd, J. (James), Broderick, P, Kinnersley, B, Holroyd, A. (Amy), Law, P.J. (Philip J.), … Houlston, R.S. (Richard S.). (2018). Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. Nature Communications, 9(1). doi:10.1038/s41467-018-03178-z