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.

The PRACTICAL Consortium,
Nature Communications
Department of Urology

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