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

• DOI: 10.1038/s41467-018-03178-z
• Publication Date: 2018-04-04T02:42:04Z
• Authors: Jayaram Vijayakri...; James Studd; Peter Broderick; Ben Kinnersley; Amy Holroyd; Philip J. Law; Rajiv Kumar; James M. Allan; Christine J. Harr...; Anthony V. Moorman; Ajay Vora; Eve Roman; Sivaramakrishna R...; Sally E. Kinsey; Eamonn Sheridan; Pamela D. Thompson; Julie A. Irving; Rolf Koehler; Per Hoffmann; Markus M. Nöthen; Stefanie Heilmann...; Karl-Heinz Jöckel; Douglas F. Easton; Paul D. P. Pharaoh; Alison M. Dunning; Julian Peto; Frederico Canzian; Anthony Swerdlow; Rosalind A. Eeles; ZSofia Kote-Jarai; Kenneth Muir; Nora Pashayan; ; Brian E. Henderson; Christopher A. Ha...; Sara Benlloch; Fredrick R. Schum...; Ali Amin Al Olama; Sonja I. Berndt; David V. Conti; Fredrik Wiklund; Stephen Chanock; Victoria L. Stevens; Catherine M. Tangen; Jyotsna Batra; Judith Clements; Henrik Gronberg; Johanna Schleutker; Demetrius Albanes; Stephanie Weinstein; Alicja Wolk; Catharine West; Lorelei Mucci; Géraldine Cancel-...; Stella Koutros; Karina Dalsgaard ...; Lovise Maehle; David E. Neal; Ruth C. Travis; Robert J. Hamilton; Sue Ann Ingles; Barry Rosenstein; Yong-Jie Lu; Graham G. Giles; Adam S. Kibel; Ana Vega; Manolis Kogevinas; Kathryn L. Penney; Jong Y. Park; Janet L. Stanford; Cezary Cybulski; Børge G. Nordestg...; Hermann Brenner; Christiane Maier; Jeri Kim; Esther M. John; Manuel R. Teixeira; Susan L. Neuhausen; Kim De Ruyck; Azad Razack; Lisa F. Newcomb; Davor Lessel; Radka Kaneva; Nawaid Usmani; Frank Claessens; Paul A. Townsend; Manuela Gago-Domi...; Monique J. Roobol; Florence Menegaux; Mel Greaves; Martin Zimmerman; Claus R. Bartram; Martin Schrappe; Martin Stanulla; Kari Hemminki; Richard S. Houlston
• Keywords: Genome-wide Association Study

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