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Genome-wide association studies (GWAS) have advanced our understanding of susceptibility to B-cell precursor acute lymphoblastic leukemia (BCP-ALL); however, much of the heritable risk remains unidentified. Here, we perform a GWAS and conduct a meta-analysis with two existing GWAS, totaling 2442 cases and 14,609 controls. We identify risk loci for BCP-ALL at 8q24.21 (rs28665337, P = 3.86 × 10-9, odds ratio (OR) = 1.34) and for ETV6-RUNX1 fusion-positive BCP-ALL at 2q22.3 (rs17481869, P = 3.20 × 10-8, OR = 2.14). Our findings provide further insights into genetic susceptibility to ALL and its biology.

Original publication

DOI

10.1038/s41467-018-03178-z

Type

Journal article

Journal

Nat Commun

Publication Date

09/04/2018

Volume

9

Keywords

Child, Child, Preschool, Core Binding Factor Alpha 2 Subunit, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Glycosyltransferases, HLA Antigens, Humans, Male, Oncogene Proteins, Fusion, Polymorphism, Single Nucleotide, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Prognosis, Risk Factors