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Title: Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk
Authors: Vijayakrishnan, J.
Qian, M.
Studd, J.B.
Yang, W.
Kinnersley, B.
Law, P.J.
Broderick, P.
Raetz, E.A.
Allan, J.
Pui, C.-H.
Vora, A.
Evans, W.E.
Moorman, A.
Yeoh, A. 
Yang, W.
Li, C.
Bartram, C.R.
Mullighan, C.G.
Zimmerman, M.
Hunger, S.P.
Schrappe, M.
Relling, M.V.
Stanulla, M.
Loh, M.L.
Houlston, R.S.
Yang, J.J.
Issue Date: 2019
Publisher: Nature Research
Citation: Vijayakrishnan, J., Qian, M., Studd, J.B., Yang, W., Kinnersley, B., Law, P.J., Broderick, P., Raetz, E.A., Allan, J., Pui, C.-H., Vora, A., Evans, W.E., Moorman, A., Yeoh, A., Yang, W., Li, C., Bartram, C.R., Mullighan, C.G., Zimmerman, M., Hunger, S.P., Schrappe, M., Relling, M.V., Stanulla, M., Loh, M.L., Houlston, R.S., Yang, J.J. (2019). Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk. Nature Communications 10 (1) : 5348. ScholarBank@NUS Repository.
Rights: Attribution 4.0 International
Abstract: There is increasing evidence for a strong inherited genetic basis of susceptibility to acute lymphoblastic leukaemia (ALL) in children. To identify new risk variants for B-cell ALL (B-ALL) we conducted a meta-analysis with four GWAS (genome-wide association studies), totalling 5321 cases and 16,666 controls of European descent. We herein describe novel risk loci for B-ALL at 9q21.31 (rs76925697, P = 2.11 × 10?8), for high-hyperdiploid ALL at 5q31.1 (rs886285, P = 1.56 × 10?8) and 6p21.31 (rs210143 in BAK1, P = 2.21 × 10?8), and ETV6-RUNX1 ALL at 17q21.32 (rs10853104 in IGF2BP1, P = 1.82 × 10?8). Particularly notable are the pleiotropic effects of the BAK1 variant on multiple haematological malignancies and specific effects of IGF2BP1 on ETV6-RUNX1 ALL evidenced by both germline and somatic genomic analyses. Integration of GWAS signals with transcriptomic/epigenomic profiling and 3D chromatin interaction data for these leukaemia risk loci suggests deregulation of B-cell development and the cell cycle as central mechanisms governing genetic susceptibility to ALL. © 2019, The Author(s).
Source Title: Nature Communications
ISSN: 20411723
DOI: 10.1038/s41467-019-13069-6
Rights: Attribution 4.0 International
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