20 research outputs found
A decade of myeloablative hla-matched sibling marrow transplantation for children with severe sickle cell disease: outcomes and lessons learned from the Atlanta experience
Endocrine-metabolic response to abdominal aortic surgery: A randomized trial of general anesthesia versus general plus epidural anesthesia
Estudo da involução uterina por meio da ultra-sonografia (modo-B) em cadelas submetidas a cesariana
Using pregnancy rates and perinatal mortality to evaluate the success of recovery strategies for endangered island foxes
Physical Activity and Cardiovascular Health in Aging Women: A Health-Promotion Perspective
Commentaries on Viewpoint: Use aerobic energy expenditure instead of oxygen uptake to quantify exercise intensity and predict endurance performance.
Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility.
Ewing sarcoma (EWS) is a pediatric cancer characterized by the EWSR1-FLI1 fusion. We performed a genome-wide association study of 733 EWS cases and 1346 unaffected individuals of European ancestry. Our study replicates previously reported susceptibility loci at 1p36.22, 10q21.3 and 15q15.1, and identifies new loci at 6p25.1, 20p11.22 and 20p11.23. Effect estimates exhibit odds ratios in excess of 1.7, which is high for cancer GWAS, and striking in light of the rarity of EWS cases in familial cancer syndromes. Expression quantitative trait locus (eQTL) analyses identify candidate genes at 6p25.1 (RREB1) and 20p11.23 (KIZ). The 20p11.22 locus is near NKX2-2, a highly overexpressed gene in EWS. Interestingly, most loci reside near GGAA repeat sequences and may disrupt binding of the EWSR1-FLI1 fusion protein. The high locus to case discovery ratio from 733 EWS cases suggests a genetic architecture in which moderate risk SNPs constitute a significant fraction of risk