The DOI matches its Crossref record; 46 of the 46 references it cites were found in a registry or an index.
Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse
Open accessAbstract
Recent genomic profiling of childhood acute lymphoblastic leukemia (ALL) identified a high-risk subtype with an expression signature resembling that of Philadelphia chromosome–positive ALL and poor prognosis (Ph-like ALL). However, the role of inherited genetic variation in Ph-like ALL pathogenesis remains unknown. In a genome-wide association study (GWAS) of 511 ALL cases and 6,661 non-ALL controls, we identified a susceptibility locus for Ph-like ALL (GATA3, rs3824662; P = 2.17 × 10−14, odds ratio (OR) = 3.85 for Ph-like ALL versus non-ALL; P = 1.05 × 10−8, OR = 3.25 for Ph-like ALL versus non-Ph-like ALL), with independent validation. The rs3824662 risk allele was associated with somatic lesions underlying Ph-like ALL (CRLF2 rearrangement, JAK gene mutation and IKZF1 deletion) and with variation in GATA3 expression. Finally, genotype at the GATA3 SNP was also associated with early treatment response and risk of ALL relapse. Our results provide insights into interactions between inherited and somatic variants and their role in ALL pathogenesis and prognosis.
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Self-citationThe genetic basis of early T-cell precursor acute lymphoblastic leukaemia
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Self-citationDeletion of IKZF1 and Prognosis in Acute Lymphoblastic Leukemia
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Cited by
Abrahão, R., Lichtensztajn, D. Y., Ribeiro, R. C., Marina, N. M., Keogh, R. H., Marcos-Gragera, R., Glaser, S. L., & Keegan, T. H. M. (2015) · Pediatric Blood & Cancer · doi:10.1002/pbc.25544 · Cited by 89
Vijayakrishnan, J., Studd, J., Broderick, P., Kinnersley, B., Holroyd, A., Law, P. J., Kumar, R., Allan, J. M., Harrison, C. J., Moorman, A. V., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-03178-z · Cited by 84
Metadata
- Authors
- Perez-Andreu, V., Roberts, K. G., Harvey, R. C., Yang, W., Cheng, C., Pei, D., Xu, H., Gastier-Foster, J., E, S., Lim, J. Y.-S., Chen, I.-M., Fan, Y., Devidas, M., Borowitz, M. J., Smith, C., Neale, G., Burchard, E. G., Torgerson, D. G., Klussmann, F. A., Villagran, C. R. N., Winick, N. J., Camitta, B. M., Raetz, E., Wood, B., Yue, F., Carroll, W. L., Larsen, E., Bowman, W. P., Loh, M. L., Dean, M., Bhojwani, D., Pui, C.-H., Evans, W. E., Relling, M. V., Hunger, S. P., Willman, C. L., Mullighan, C. G., & Yang, J. J.
- Venue
- Nature Genetics
- Published
- 2013-10-20
- Volume
- 45
- Issue
- 12
- Pages
- 1494-1498
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2093101127
- Cited by
- 305
- References
- 46
- FWCI
- 21.74
- Type
- journal article
- Language
- en
- Open access
- green
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- Perez-Andreu, V., Roberts, K. G., Harvey, R. C., Yang, W., Cheng, C., Pei, D., Xu, H., Gastier-Foster, J., E, S., Lim, J. Y.-S., Chen, I.-M., Fan, Y., Devidas, M., Borowitz, M. J., Smith, C., Neale, G., Burchard, E. G., Torgerson, D. G., Klussmann, F. A., . . . Yang, J. J. (2013). Inherited GATA3 variants are associated with Ph-like childhood acute lymphoblastic leukemia and risk of relapse. Nature Genetics. https://doi.org/10.1038/ng.2803
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