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Nguyen, Le B; Diskin, Sharon J; Capasso, Mario; Wang, Kai; Diamond, Maura A; Glessner, Joseph; Kim, Cecilia; Attiyeh, Edward F; Mosse, Yael P; Cole, Kristina; Iolascon, Achille; Devoto, Marcella; Hakonarson, Hakon; Li, Hongzhe K; Maris, John M
PLOS genetics, 03/2011, Letnik: 7, Številka: 3Journal Article
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.
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in: SICRIS
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