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Cited by 502

The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.

Germline genomic variants associated with childhood acute lymphoblastic leukemia

Open access
Treviño, Lisa R, Yang, Wenjian, French, Deborah, Hunger, Stephen P, Carroll, William L, Devidas, Meenakshi, Willman, Cheryl, Neale, Geoffrey, Downing, James, Raimondi, Susana C, Pui, Ching-Hon, Evans, William E, Relling, Mary V·2009·Nature Genetics

Abstract

Using the Affymetrix 500K Mapping array and publicly available genotypes, we identified 18 SNPs whose allele frequency differed significantly(P < 1 × 10−5) between pediatric acute lymphoblastic leukemia (ALL) cases (n = 317) and non-ALL controls (n = 17,958). Two SNPs in ARID5B not only differed between ALL and non-ALL groups (rs10821936, P = 1.4 × 10−15, odds ratio (OR) = 1.91; rs10994982, P = 5.7 × 10−9, OR = 1.62) but also distinguished B-hyperdiploid ALL from other subtypes (rs10821936, P = 1.62 × 10−5, OR = 2.17; rs10994982, P = 0.003, OR 1.72). These ARID5B SNPs also distinguished B-hyperdiploid ALL from other subtypes in an independent validation cohort (n = 124 children with ALL; P = 0.003 and P = 0.0008, OR 2.45 and 2.86, respectively) and were associated with methotrexate accumulation and gene expression pattern in leukemic lymphoblasts. We conclude that germline variants affect susceptibility to, and characteristics of, specific ALL subtypes.

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Research works printed but not linked: 8

  1. Schnakenberg, E. et al. Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to pediatric acute lymphoblastic leukemia in a German study population. BMC Med. Genet. 6, 23 (2005). · doi:10.1186/1471-2350-6-23
  2. Stanulla, M. et al. Polymorphisms within glutathione S-transferase genes (GSTM1, GSTT1, GSTP1) and risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia: a case-control study. Blood 95, 1222–1228 (2000). · doi:10.1182/blood.v95.4.1222.004k20_1222_1228
  3. Mathonnet, G., Krajinovic, M., Labuda, D. & Sinnett, D. Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia. Br. J. Haematol. 123, 45–48 (2003). · doi:10.1046/j.1365-2141.2003.04551.x
  4. Sobti, R.C. et al. Combined effect of GSTM1, GSTT1 and GSTP1 polymorphisms on histological subtypes of lung cancer. Biomarkers 13, 282–295 (2008). · doi:10.1080/13547500701843437
  5. Chen, H.C. et al. Genetic polymorphisms of metabolic enzymes CYP1A1, CYP2D6, GSTM1 and GSTT1 and leukemia susceptibility. Eur. J. Cancer Prev. 17, 251–258 (2008). · doi:10.1097/cej.0b013e3282b72093
  6. Ziino, O. et al. Acute lymphoblastic leukemia in children with associated genetic conditions other than Down's syndrome. The AIEOP experience. Haematologica 91, 139–140 (2006).
  7. Borowitz, M.J. et al. Minimal residual disease detection in childhood precursor-B-cell acute lymphoblastic leukemia: relation to other risk factors. A Children's Oncology Group study. Leukemia 17, 1566–1572 (2003). · doi:10.1038/sj.leu.2403001
  8. Fabre, G. et al. In vitro formation of polyglutamyl derivatives of methotrexate and 7- hydroxymethotrexate in human lymphoblastic leukemia cells. Cancer Res. 43, 4648–4652 (1983).

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Metadata

Authors
Treviño, L. R., Yang, W., French, D., Hunger, S. P., Carroll, W. L., Devidas, M., Willman, C., Neale, G., Downing, J., Raimondi, S. C., Pui, C.-H., Evans, W. E., & Relling, M. V.
Venue
Nature Genetics
Published
2009-08-16
Volume
41
Issue
9
Pages
1001-1005
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2056176185
Cited by
502
References
41
FWCI
40.14
Type
journal article
Language
en
Open access
green
Licence
www.springer.com/tdm (tdm)

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CoChat. (2026). Citation check: Germline genomic variants associated with childhood acute lymphoblastic leukemia. https://app.cochat.ai/papers/10.1038/ng.432
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Treviño, L. R., Yang, W., French, D., Hunger, S. P., Carroll, W. L., Devidas, M., Willman, C., Neale, G., Downing, J., Raimondi, S. C., Pui, C.-H., Evans, W. E., & Relling, M. V. (2009). Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nature Genetics. https://doi.org/10.1038/ng.432

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