Genome-wide association study

Human leukocyte antigen

Biology

Gene

Genotype

Antigen

Genome

Single-nucleotide polymorphism

Immunology

Leukemia

Myeloid leukemia

Myeloid

Genetics

Locus (genetics)

Nature Communications

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 ).

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