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Nature Research, Nature Communications, 1(12), 2021

DOI: 10.1038/s41467-021-26551-x

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

Journal article published in 2021 by Wei-Yu Lin ORCID, Sarah E. Fordham, Eric Hungate, Nicola J. Sunter, Claire Elstob ORCID, Yaobo Xu, Catherine Park, Anne Quante, Konstantin Strauch, Christian Gieger ORCID, Andrew Skol, Thahira Rahman, Lara Sucheston-Campbell, Junke Wang, Theresa Hahn ORCID and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractAcute 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).