Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

Mario Capasso, Marcella Devoto, Cuiping Hou, Shahab Asgharzadeh, Joseph T. Glessner, Edward F. Attiyeh, Yael P. Mosse, Cecilia Kim, Sharon J. Diskin, Kristina A. Cole, Kristopher Bosse, Maura Diamond, Marci Laudenslager, Cynthia Winter, Jonathan P. Bradfield, Richard H. Scott, Jayanti Jagannathan, Maria Garris, Carmel McConville, Wendy B. LondonRobert C. Seeger, Struan F A Grant, Hongzhe Li, Nazneen Rahman, Eric Rappaport, Hakon Hakonarson, John M. Maris

Research output: Contribution to journalArticlepeer-review


We conducted a SNP-based genome-wide association study (GWAS) focused on the high-risk subset of neuroblastoma. As our previous unbiased GWAS showed strong association of common 6p22 SNP alleles with aggressive neuroblastoma, we restricted our analysis here to 397 high-risk cases compared to 2,043 controls. We detected new significant association of six SNPs at 2q35 within the BARD1 locus (P allelic = 2.35 × 10 9 -2.25 × 10 8). We confirmed each SNP association in a second series of 189 high-risk cases and 1,178 controls (P allelic = 7.90 × 10 7 -2.77 × 10 4). We also tested the two most significant SNPs (rs6435862, rs3768716) in two additional independent high-risk neuroblastoma case series, yielding combined allelic odds ratios of 1.68 each (P = 8.65 × 10 18 and 2.74 × 10 16, respectively). We also found significant association with known BARD1 nonsynonymous SNPs. These data show that common variation in BARD1 contributes to the etiology of the aggressive and most clinically relevant subset of human neuroblastoma.

Original languageEnglish
Pages (from-to)718-723
Number of pages6
JournalNature Genetics
Issue number6
Publication statusPublished - Jun 2009

ASJC Scopus subject areas

  • Genetics
  • Medicine(all)


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