The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Novel Susceptibility Variants at 10p12.31-12.2 for Childhood Acute Lymphoblastic Leukemia in Ethnically Diverse Populations
Open accessAbstract
BACKGROUND: Acute lymphoblastic leukemia (ALL) is the most common cancer in children and the incidence of ALL varies by ethnicity. Although accumulating evidence indicates inherited predisposition to ALL, the genetic basis of ALL susceptibility in diverse ancestry has not been comprehensively examined. METHODS: We performed a multiethnic genome-wide association study in 1605 children with ALL and 6661 control subjects after adjusting for population structure, with validation in three replication series of 845 case subjects and 4316 control subjects. Association was tested by two-sided logistic regression. RESULTS: A novel ALL susceptibility locus at 10p12.31-12.2 (BMI1-PIP4K2A, rs7088318, P = 1.1 × 10(-11)) was identified in the genome-wide association study, with independent replication in European Americans, African Americans, and Hispanic Americans (P = .001, .009, and .04, respectively). Association was also validated at four known ALL susceptibility loci: ARID5B, IKZF1, CEBPE, and CDKN2A/2B. Associations at ARID5B, IKZF1, and BMI1-PIP4K2A variants were consistent across ethnicity, with multiple independent signals at IKZF1 and BMI1-PIP4K2A loci. The frequency of ARID5B and BMI1-PIP4K2A variants differed by ethnicity, in parallel with ethnic differences in ALL incidence. Suggestive evidence for modifying effects of age on genetic predisposition to ALL was also observed. ARID5B, IKZF1, CEBPE, and BMI1-PIP4K2A variants cumulatively conferred strong predisposition to ALL, with children carrying six to eight copies of risk alleles at a ninefold (95% confidence interval = 6.9 to 11.8) higher ALL risk relative to those carrying zero to one risk allele at these four single nucleotide polymorphisms. CONCLUSIONS: These findings indicate strong associations between inherited genetic variation and ALL susceptibility in children and shed new light on ALL molecular etiology in diverse ancestry.
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Cites
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
Population Structure and Eigenanalysis
Patterson, N., Price, A. L., & Reich, D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020190 · Cited by 5,280
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821
Deletion of IKZF1 and Prognosis in Acute Lymphoblastic Leukemia
Mullighan, C. G., Su, X., Zhang, J., Radtke, I., Phillips, L. A. A., Miller, C. B., Ma, J., Liu, W., Cheng, C., Schulman, B. A., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0808253 · Cited by 1,422
Self-citationUnoki, H., Takahashi, A., Kawaguchi, T., Hara, K., Horikoshi, M., Andersen, G., Ng, D. P. K., Holmkvist, J., Borch-Johnsen, K., Jørgensen, T., et al. (2008) · Nature Genetics · doi:10.1038/ng.208 · Cited by 725
Genome-wide association studies in diverse populations
Rosenberg, N. A., Huang, L., Jewett, E. M., Szpiech, Z. A., Jankovic, I., & Boehnke, M. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2760 · Cited by 566
Waters, K. M., Stram, D. O., Hassanein, M. T., Le Marchand, L., Wilkens, L. R., Maskarinec, G., Monroe, K. R., Kolonel, L. N., Altshuler, D., Henderson, B. E., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001078 · Cited by 191
Cited by
Malard, F., & Mohty, M. (2020) · The Lancet · doi:10.1016/s0140-6736(19)33018-1 · Cited by 773
A 50-Year Journey to Cure Childhood Acute Lymphoblastic Leukemia
Pui, C.-H., & Evans, W. E. (2013) · Seminars in Hematology · doi:10.1053/j.seminhematol.2013.06.007 · Cited by 368
Self-citationBiology of Childhood Acute Lymphoblastic Leukemia
Bhojwani, D., Yang, J. J., & Pui, C.-H. (2015) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2014.09.004 · Cited by 311
Self-citationPerez-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., et al. (2013) · Nature Genetics · doi:10.1038/ng.2803 · Cited by 305
Self-citationAdolescent and young adult patients with cancer: a milieu of unique features
Sender, L., & Zabokrtsky, K. B. (2015) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2015.92 · Cited by 130
Metadata
- Authors
- Xu, H., Yang, W., Perez-Andreu, V., Devidas, M., Fan, Y., Cheng, C., Pei, D., Scheet, P., Burchard, E. G., Eng, C., Huntsman, S., Torgerson, D. G., Dean, M., Winick, N. J., Martin, P. L., Camitta, B. M., Bowman, W. P., Willman, C. L., Carroll, W. L., Mullighan, C. G., Bhojwani, D., Hunger, S. P., Pui, C.-H., Evans, W. E., Relling, M. V., Loh, M. L., & Yang, J. J.
- Venue
- JNCI: Journal of the National Cancer Institute
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-03-19
- Volume
- 105
- Issue
- 10
- Pages
- 733-742
- ISSN
- 0027-8874 (ISSN-L)
- 1460-2105
- OpenAlex
- W2138883729
- Cited by
- 227
- References
- 7
- FWCI
- 28.36
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Novel Susceptibility Variants at 10p12.31-12.2 for Childhood Acute Lymphoblastic Leukemia in Ethnically Diverse Populations. https://app.cochat.ai/papers/10.1093/jnci/djt042
- The paper
- Xu, H., Yang, W., Perez-Andreu, V., Devidas, M., Fan, Y., Cheng, C., Pei, D., Scheet, P., Burchard, E. G., Eng, C., Huntsman, S., Torgerson, D. G., Dean, M., Winick, N. J., Martin, P. L., Camitta, B. M., Bowman, W. P., Willman, C. L., Carroll, W. L., . . . Yang, J. J. (2013). Novel Susceptibility Variants at 10p12.31-12.2 for Childhood Acute Lymphoblastic Leukemia in Ethnically Diverse Populations. JNCI: Journal of the National Cancer Institute. https://doi.org/10.1093/jnci/djt042
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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