Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

Nat Commun. 2018 Apr 9;9(1):1340. doi: 10.1038/s41467-018-03178-z.

Abstract

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.

MeSH terms

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

Substances

  • Core Binding Factor Alpha 2 Subunit
  • HLA Antigens
  • Oncogene Proteins, Fusion
  • TEL-AML1 fusion protein
  • GTDC1 protein, human
  • Glycosyltransferases