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Type: Journal article
Title: A genome-wide association study of susceptibility to acute lymphoblastic leukemia in adolescents and young adults
Author: Perez-Andreu, V.
Roberts, K.
Xu, H.
Smith, C.
Zhang, H.
Yang, W.
Harvey, R.
Payne-Turner, D.
Devidas, M.
Cheng, I.
Carroll, W.
Heerema, N.
Carroll, A.
Raetz, E.
Gastier-Foster, J.
Marcucci, G.
Bloomfield, C.
Mrozek, K.
Kohlschmidt, J.
Stock, W.
et al.
Citation: Blood, 2015; 125(4):680-686
Publisher: American Society of Hematology
Issue Date: 2015
ISSN: 0006-4971
Statement of
Virginia Perez-Andreu ... Charles G. Mullighan ... et al.
Abstract: AAcute 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 308AYAALL cases and 6,661 non-ALL controls by using a logistic regression model with genetic ancestry as a covariate. SNPs that reached P £ 5 3 1028 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 5 2.8 3 10210) and rs3781093, OR, 1.73 (P 53.2 3 1029). These findings were validated in the replication cohort. The risk allele at rs3824662 was most frequent in Philadelphia chromosome (Ph)-like ALL but also conferred susceptibility to non–Ph-like ALL in AYAs. In 1,827 non-selected ALL cases, the risk allele frequency at this SNP was positively correlated with age at diagnosis (P56.29310211).Our results fromthis first GWAS of AYA ALL susceptibility point to unique biology underlying leukemogenesis and potentially distinct disease etiology by age group. (Blood. 2015;125(4):680-686)
Keywords: Philadelphia Chromosome
Genetic Predisposition to Disease
Neoplasm Proteins
Risk Factors
Gene Frequency
Polymorphism, Single Nucleotide
GATA3 Transcription Factor
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Genome-Wide Association Study
Young Adult
Genetic Loci
Rights: Copyright 2011 by The American Society of Hematology; all rights reserved.
DOI: 10.1182/blood-2014-09-595744
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