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

Journal article

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)

Authors: Lin, W-Y; Fordham, SE; Hungate, E; Sunter, NJ; Elstob, C

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Nature Research
• Journal: Nature Communications
• Volume: 12
• Issue: 1
• Pages: 6233-6233
• Article number: 6233
• Publication date: 2021-10-29
• DOI: 10.1038/s41467-021-26551-x
• EISSN: 2041-1723
• ISSN: 2041-1723
• Language: English
• Keywords: Genetics; Locus (genetics); Myeloid leukemia; Genotype; Human leukocyte antigen; Genome; Single-nucleotide polymorphism; Immunology; Gene; Leukemia; Myeloid; Biology; Genome-wide association study; Antigen