Genome-wide association study identifies susceptibility loci for acute myeloid leukemia

Nat Commun. 2021 Oct 29;12(1):6233. doi: 10.1038/s41467-021-26551-x.

Abstract

Acute myeloid leukemia (AML) is a hematological malignancy with an undefined heritable risk. Here we perform a meta-analysis of three genome-wide association studies, with replication in a fourth study, incorporating a total of 4018 AML cases and 10488 controls. We identify a genome-wide significant risk locus for AML at 11q13.2 (rs4930561; P = 2.15 × 10-8; KMT5B). We also identify a genome-wide significant risk locus for the cytogenetically normal AML sub-group (N = 1287) at 6p21.32 (rs3916765; P = 1.51 × 10-10; HLA). Our results inform on AML etiology and identify putative functional genes operating in histone methylation (KMT5B) and immune function (HLA).

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aldehyde Reductase / genetics
  • Case-Control Studies
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • HLA Antigens / genetics*
  • Humans
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / mortality
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Reproducibility of Results
  • White People / genetics

Substances

  • HLA Antigens
  • AKR1B1 protein, human
  • Aldehyde Reductase