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The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma

Open access
Diskin, Sharon J, Capasso, Mario, Schnepp, Robert W, Cole, Kristina A, Attiyeh, Edward F, Hou, Cuiping, Diamond, Maura, Carpenter, Erica L, Winter, Cynthia, Lee, Hanna, Jagannathan, Jayanti, Latorre, Valeria, Iolascon, Achille, Hakonarson, Hakon, Devoto, Marcella, Maris, John M·2012·Nature Genetics

Abstract

Neuroblastoma is a cancer of the sympathetic nervous system that accounts for approximately 10% of all pediatric oncology deaths. Here, we report a genome-wide association study of 2,817 neuroblastoma cases and 7,473 controls. We identified two new associations at 6q16, the first within HACE1 (rs4336470; combined P = 2.7 × 10−11; odds ratio 1.26, 95% confidence interval (CI) 1.18–1.35) and the second within LIN28B (rs17065417; combined P = 1.2 × 10−8; odds ratio 1.38, 95% CI 1.23–1.54). Expression of LIN28B and let-7 miRNA correlated with rs17065417 genotype in neuroblastoma cell lines, and we observed significant growth inhibition upon depletion of LIN28B, specifically in neuroblastoma cells that were homozygous for the risk allele. Low HACE1 and high LIN28B expression in diagnostic primary neuroblastomas were associated with worse overall survival (P = 0.008 and 0.014, respectively). Taken together, these data show that common variants in HACE1 and LIN28B influence neuroblastoma susceptibility and indicate that both genes likely have a role in disease progression.

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Metadata

Authors
Diskin, S. J., Capasso, M., Schnepp, R. W., Cole, K. A., Attiyeh, E. F., Hou, C., Diamond, M., Carpenter, E. L., Winter, C., Lee, H., Jagannathan, J., Latorre, V., Iolascon, A., Hakonarson, H., Devoto, M., & Maris, J. M.
Venue
Nature Genetics
Published
2012-09-02
Volume
44
Issue
10
Pages
1126-1130
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2079957854
Cited by
266
References
10
FWCI
12.53
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. https://app.cochat.ai/papers/10.1038/ng.2387
The paper
Diskin, S. J., Capasso, M., Schnepp, R. W., Cole, K. A., Attiyeh, E. F., Hou, C., Diamond, M., Carpenter, E. L., Winter, C., Lee, H., Jagannathan, J., Latorre, V., Iolascon, A., Hakonarson, H., Devoto, M., & Maris, J. M. (2012). Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. Nature Genetics. https://doi.org/10.1038/ng.2387

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