Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility loci

Lễ B. Nguyễn, Sharon J. Diskin, Mario Capasso, Kai Wang, Maura A. Diamond, Joseph Glessner, Cecilia Kim, Edward F. Attiyeh, Yael P. Mosse, Kristina Cole, Achille Iolascon, Marcella Devoto, Hakon Hakonarson, Hongzhe K. Li, John M. Maris

Research output: Contribution to journalArticle

Abstract

Neuroblastoma is a malignant neoplasm of the developing sympathetic nervous system that is notable for its phenotypic diversity. High-risk patients typically have widely disseminated disease at diagnosis and a poor survival probability, but low-risk patients frequently have localized tumors that are almost always cured with little or no chemotherapy. Our genome-wide association study (GWAS) has identified common variants within FLJ22536, BARD1, and LMO1 as significantly associated with neuroblastoma and more robustly associated with high-risk disease. Here we show that a GWAS focused on low-risk cases identified SNPs within DUSP12 at 1q23.3 (P = 2.07×10-6), DDX4 and IL31RA both at 5q11.2 (P = 2.94×10-6 and 6.54×10-7 respectively), and HSD17B12 at 11p11.2 (P = 4.20×10-7) as being associated with the less aggressive form of the disease. These data demonstrate the importance of robust phenotypic data in GWAS analyses and identify additional susceptibility variants for neuroblastoma.

Original languageEnglish
Article numbere1002026
JournalPLoS Genetics
Volume7
Issue number3
DOIs
Publication statusPublished - Mar 2011

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology
  • Ecology, Evolution, Behavior and Systematics
  • Cancer Research
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Phenotype restricted genome-wide association study using a gene-centric approach identifies three low-risk neuroblastoma susceptibility loci'. Together they form a unique fingerprint.

Cite this