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

Jayaram Vijayakrishnan; James Studd ORCID logo; Peter Broderick ORCID logo; Ben Kinnersley ORCID logo; Amy Holroyd; Philip J Law ORCID logo; Rajiv Kumar; James M Allan; Christine J Harrison; Anthony V Moorman; +30 more... Ajay Vora; Eve Roman; Sivaramakrishna Rachakonda; Sally E Kinsey; Eamonn Sheridan; Pamela D Thompson; Julie A Irving; Rolf Koehler; Per Hoffmann; Markus M Nöthen; Stefanie Heilmann-Heimbach; Karl-Heinz Jöckel; Douglas F Easton ORCID logo; Paul DP Pharaoh ORCID logo; Alison M Dunning; Julian Peto ORCID logo; Frederico Canzian ORCID logo; Anthony Swerdlow; Rosalind A Eeles ORCID logo; ZSofia Kote-Jarai; Kenneth Muir ORCID logo; Nora Pashayan ORCID logo; PRACTICAL Consortium; Mel Greaves; Martin Zimmerman; Claus R Bartram; Martin Schrappe; Martin Stanulla; Kari Hemminki; Richard S Houlston; (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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