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

Lin, Wei-Yu; Fordham, Sarah E; Hungate, Eric; Sunter, Nicola J; Elstob, Claire; Xu, Yaobo; Park, Catherine; Quante, Anne et al. · Nat Commun · 2021

meta_analysis · Level I

Where this comes from

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<sup>-8</sup>; 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<sup>-10</sup>; HLA). Our results inform on AML etiology and identify putative functional genes operating in histone methylation (KMT5B) and immune function (HLA).

Medical subject headings