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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