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Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

Author

Listed:
  • Xiao Chang

    (Children’s Hospital of Philadelphia)

  • Yan Zhao

    (Children’s Hospital of Philadelphia)

  • Cuiping Hou

    (Children’s Hospital of Philadelphia)

  • Joseph Glessner

    (Children’s Hospital of Philadelphia)

  • Lee McDaniel

    (The Children’s Hospital of Philadelphia)

  • Maura A. Diamond

    (The Children’s Hospital of Philadelphia)

  • Kelly Thomas

    (Children’s Hospital of Philadelphia)

  • Jin Li

    (Children’s Hospital of Philadelphia)

  • Zhi Wei

    (New Jersey Institute of Technology)

  • Yichuan Liu

    (Children’s Hospital of Philadelphia)

  • Yiran Guo

    (Children’s Hospital of Philadelphia)

  • Frank D. Mentch

    (Children’s Hospital of Philadelphia)

  • Haijun Qiu

    (Children’s Hospital of Philadelphia)

  • Cecilia Kim

    (Children’s Hospital of Philadelphia)

  • Perry Evans

    (The Children’s Hospital of Philadelphia)

  • Zalman Vaksman

    (The Children’s Hospital of Philadelphia)

  • Sharon J. Diskin

    (The Children’s Hospital of Philadelphia
    University of Pennsylvania)

  • Edward F. Attiyeh

    (The Children’s Hospital of Philadelphia)

  • Patrick Sleiman

    (Children’s Hospital of Philadelphia
    University of Pennsylvania
    Children’s Hospital of Philadelphia)

  • John M. Maris

    (The Children’s Hospital of Philadelphia
    University of Pennsylvania)

  • Hakon Hakonarson

    (Children’s Hospital of Philadelphia
    University of Pennsylvania
    Children’s Hospital of Philadelphia)

Abstract

MYCN amplification and 11q deletion are two inversely correlated prognostic factors of poor outcome in neuroblastoma. Here we identify common variants at 11q22.2 within MMP20 that associate with neuroblastoma cases harboring 11q deletion (rs10895322), using GWAS in 113 European-American cases and 5109 ancestry-matched controls. The association is replicated in 44 independent cases and 1902 controls. Our study yields novel insights into the genetic underpinnings of neuroblastoma, demonstrating that the inherited common variants reported contribute to the origin of intra-tumor genetic heterogeneity in neuroblastoma.

Suggested Citation

  • Xiao Chang & Yan Zhao & Cuiping Hou & Joseph Glessner & Lee McDaniel & Maura A. Diamond & Kelly Thomas & Jin Li & Zhi Wei & Yichuan Liu & Yiran Guo & Frank D. Mentch & Haijun Qiu & Cecilia Kim & Perry, 2017. "Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk," Nature Communications, Nature, vol. 8(1), pages 1-7, December.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_s41467-017-00408-8
    DOI: 10.1038/s41467-017-00408-8
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