A1 Refereed original research article in a scientific journal

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




AuthorsMucci L., West C., Koutros S., Cancel-Tassin G., Maehle L., Sorensen K., Travis R., Neal D., Batra J., Tangen C., Gronberg H., Clements J., Albanes D., Schleutker J., Wolk A., Weinstein S., Penney K., Park J., Stanford J., Cybulski C., Nordestgaard B., Brenner H., Maier C., Kim J., Hamilton R., Ingles S., Rosenstein B., Lu Y., Giles G., Kibel A., Vega A., Kogevinas M., Dominguez M., Townsend P., Claessens F., Usmani N., Menegaux F., Roobol M., De Ruyck K., Neuhausen S., Teixeira M., John E., Kaneva R., Lessel D., Newcomb L., Razack A., Vijayakrishnan J., Kumar R., Law P., Harrison C., Allan J., Broderick P., Studd J., Holroyd A., Kinnersley B., Sheridan E., Kinsey S., Irving J., Thompson P., Vora A., Moorman A., Rachakonda S., Roman E., Pharaoh P., Dunning A., Jöckel K., Easton D., Nöthen M., Heilmann-Heimbach S., Koehler R., Hoffmann P., Pashayan N., Greaves M., Kote-Jarai Z., Muir K., Swerdlow A., Eeles R., Peto J., Canzian F., Haiman C., Henderson B., Houlston R., Hemminki K., Stanulla M., Schrappe M., Bartram C., Zimmerman M., Stevens V., Chanock S., Wiklund F., Conti D., Berndt S., Olama A., Schumacher F., Benlloch S.

PublisherNature Publishing Group

Publication year2018

JournalNature Communications

Journal name in sourceNature Communications

Article number1340

Volume9

Number of pages9

ISSN2041-1723

DOIhttps://doi.org/10.1038/s41467-018-03178-z

Self-archived copy’s web addresshttps://research.utu.fi/converis/portal/detail/Publication/31531455


Abstract

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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