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).
FörderungenDr. Rolf M. Schwiete Fund, Mannheim Hungarian National Research, Development and Innovation Office (NKFIH) Hungarian Academy of Sciences EU's Horizon 2020 research and innovation program Helmholtz Zentrum Munchen-German Research Center for Environmental Health - German Federal Ministry of Education and Research (BMBF) State of Bavaria Munich Center of Health Sciences (MC-Health), Ludwig-Maximilians-Universitat, LMUinnovativ Progetto AIRC 5permille Mynerva Deutsche Jose Carreras Leukaemie Stiftung H.W. & J. Hector fund, Baden Wuerttemberg Blood Cancer UK