Please use this identifier to cite or link to this item:
https://doi.org/10.1038/s41467-019-13069-6
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. https://doi.org/10.1038/s41467-019-13069-6 | 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 | URI: | https://scholarbank.nus.edu.sg/handle/10635/212248 | ISSN: | 20411723 | DOI: | 10.1038/s41467-019-13069-6 | Rights: | Attribution 4.0 International |
Appears in Collections: | Staff Publications Elements |
Show full item record
Files in This Item:
File | Description | Size | Format | Access Settings | Version | |
---|---|---|---|---|---|---|
10_1038_s41467-019-13069-6.pdf | 1.28 MB | Adobe PDF | OPEN | None | View/Download |
This item is licensed under a Creative Commons License