Authors
Virginia Perez-Andreu, Kathryn G Roberts, Heng Xu, Colton Smith, Hui Zhang, Wenjian Yang, Richard C Harvey, Debbie Payne-Turner, Meenakshi Devidas, I-Ming Cheng, William L Carroll, Nyla A Heerema, Andrew J Carroll, Elizabeth A Raetz, Julie M Gastier-Foster, Guido Marcucci, Clara D Bloomfield, Krzysztof Mrózek, Jessica Kohlschmidt, Wendy Stock, Steven M Kornblau, Marina Konopleva, Elisabeth Paietta, Jacob M Rowe, Selina M Luger, Martin S Tallman, Michael Dean, Esteban G Burchard, Dara G Torgerson, Feng Yue, Yanli Wang, Ching-Hon Pui, Sima Jeha, Mary V Relling, William E Evans, Daniela S Gerhard, Mignon L Loh, Cheryl L Willman, Stephen P Hunger, Charles G Mullighan, Jun J Yang
Publication date
2015/1/22
Journal
Blood, The Journal of the American Society of Hematology
Volume
125
Issue
4
Pages
680-686
Publisher
American Society of Hematology
Description
Acute lymphoblastic leukemia (ALL) in adolescents and young adults (AYA) is characterized by distinct presenting features and inferior prognosis compared with pediatric ALL. We performed a genome-wide association study (GWAS) to comprehensively identify inherited genetic variants associated with susceptibility to AYA ALL. In the discovery GWAS, we compared genotype frequency at 635 297 single nucleotide polymorphisms (SNPs) in 308 AYA ALL cases and 6,661 non-ALL controls by using a logistic regression model with genetic ancestry as a covariate. SNPs that reached P ≤ 5 × 10−8 in GWAS were tested in an independent cohort of 162 AYA ALL cases and 5,755 non-ALL controls. We identified a single genome-wide significant susceptibility locus in GATA3: rs3824662, odds ratio (OR), 1.77 (P = 2.8 × 10−10) and rs3781093, OR, 1.73 (P = 3.2 × 10−9). These findings were validated in the …
Scholar articles
V Perez-Andreu, KG Roberts, H Xu, C Smith, H Zhang… - Blood, The Journal of the American Society of …, 2015