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

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 Evans, Zalman Vaksman, Sharon J. Diskin, Edward F. Attiyeh, Patrick Sleiman, John M. MarisHakon Hakonarson

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


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.

Original languageEnglish (US)
Article number569
JournalNature communications
Issue number1
StatePublished - Dec 1 2017

All Science Journal Classification (ASJC) codes

  • General Chemistry
  • General Biochemistry, Genetics and Molecular Biology
  • General Physics and Astronomy


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