Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

Vijayakrishnan, Jayaram; Studd, JamesORCID logo; Broderick, PeterORCID logo; Kinnersley, BenORCID logo; Holroyd, Amy; Law, Philip JORCID logo; Kumar, Rajiv; Allan, James M; Harrison, Christine J; Moorman, Anthony V; +30 more...Vora, Ajay; Roman, Eve; Rachakonda, Sivaramakrishna; Kinsey, Sally E; Sheridan, Eamonn; Thompson, Pamela D; Irving, Julie A; Koehler, Rolf; Hoffmann, Per; Nöthen, Markus M; Heilmann-Heimbach, Stefanie; Jöckel, Karl-Heinz; Easton, Douglas FORCID logo; Pharaoh, Paul DPORCID logo; Dunning, Alison M; Peto, JulianORCID logo; Canzian, FredericoORCID logo; Swerdlow, Anthony; Eeles, Rosalind AORCID logo; Kote-Jarai, ZSofia; Muir, KennethORCID logo; Pashayan, NoraORCID logo; PRACTICAL Consortium; Greaves, Mel; Zimmerman, Martin; Bartram, Claus R; Schrappe, Martin; Stanulla, Martin; Hemminki, Kari; and Houlston, Richard S (2018) Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. Nature communications, 9 (1). 1340-. ISSN 2041-1723 DOI: 10.1038/s41467-018-03178-z
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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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