Journal
NATURE GENETICS
Volume 44, Issue 3, Pages 323-U133Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.1085
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Funding
- Institut Curie
- Inserm
- Ligue Nationale Contre le Cancer
- Region Ile de France
- Institut National du Cancer [2008-044, 0627, ZP09-027-EPI]
- Synergie Lyon Cancer foundation
- KCK
- European Embryonal Tumor (EET) pipeline programs
- Societe Francaise des Cancers de l'Enfant
- Spanish Ministry of Science and Technology [SAF2009-10158]
- Fundacion de la Asociacion Espanola Contra el Cancer
- Fundacion Maria Francisca de Roviralta
- Sociedad Espanola de Hematologia y Oncologia Pediatricas
- Courir pour Mathieu
- Dans les pas du Geant
- Olivier Chape
- Les Bagouzamanon
- Enfants et Sante
- les Amis de Claire
- MRC [G1002084] Funding Source: UKRI
- Medical Research Council [G1002084] Funding Source: researchfish
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Ewing sarcoma, a pediatric tumor characterized by EWSR1-ETS fusions, is predominantly observed in populations of European ancestry. We performed a genome-wide association study (GWAS) of 401 French individuals with Ewing sarcoma, 684 unaffected French individuals and 3,668 unaffected individuals of European descent and living in the United States. We identified candidate risk loci at 1p36.22, 10q21 and 15q15. We replicated these loci in two independent sets of cases and controls. Joint analysis identified associations with rs9430161 (P = 1.4 x 10(-20); odds ratio (OR) = 2.2) located 25 kb upstream of TARDBP, rs224278 (P = 4.0 x 10(-17); OR = 1.7) located 5 kb upstream of EGR2 and, to a lesser extent, rs4924410 at 15q15 (P = 6.6 x 10(-9); OR = 1.5). The major risk haplotypes were less prevalent in Africans, suggesting that these loci could contribute to geographical differences in Ewing sarcoma incidence. TARDBP shares structural similarities with EWSR1 and FUS, which encode RNA binding proteins, and EGR2 is a target gene of EWSR1-ETS. Variants at these loci were associated with expression levels of TARDBP, ADO (encoding cysteamine dioxygenase) and EGR2.
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