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

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 × 10-8; 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).

SUBMITTER: Lin WY 

PROVIDER: S-EPMC8556284 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

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

Lin Wei-Yu WY   Fordham Sarah E SE   Hungate Eric E   Sunter Nicola J NJ   Elstob Claire C   Xu Yaobo Y   Park Catherine C   Quante Anne A   Strauch Konstantin K   Gieger Christian C   Skol Andrew A   Rahman Thahira T   Sucheston-Campbell Lara L   Wang Junke J   Hahn Theresa T   Clay-Gilmour Alyssa I AI   Jones Gail L GL   Marr Helen J HJ   Jackson Graham H GH   Menne Tobias T   Collin Mathew M   Ivey Adam A   Hills Robert K RK   Burnett Alan K AK   Russell Nigel H NH   Fitzgibbon Jude J   Larson Richard A RA   Le Beau Michelle M MM   Stock Wendy W   Heidenreich Olaf O   Alharbi Abrar A   Allsup David J DJ   Houlston Richard S RS   Norden Jean J   Dickinson Anne M AM   Douglas Elisabeth E   Lendrem Clare C   Daly Ann K AK   Palm Louise L   Piechocki Kim K   Jeffries Sally S   Bornhäuser Martin M   Röllig Christoph C   Altmann Heidi H   Ruhnke Leo L   Kunadt Desiree D   Wagenführ Lisa L   Cordell Heather J HJ   Darlay Rebecca R   Andersen Mette K MK   Fontana Maria C MC   Martinelli Giovanni G   Marconi Giovanni G   Sanz Miguel A MA   Cervera José J   Gómez-Seguí Inés I   Cluzeau Thomas T   Moreilhon Chimène C   Raynaud Sophie S   Sill Heinz H   Voso Maria Teresa MT   Lo-Coco Francesco F   Dombret Hervé H   Cheok Meyling M   Preudhomme Claude C   Gale Rosemary E RE   Linch David D   Gaal-Wesinger Julia J   Masszi Andras A   Nowak Daniel D   Hofmann Wolf-Karsten WK   Gilkes Amanda A   Porkka Kimmo K   Milosevic Feenstra Jelena D JD   Kralovics Robert R   Grimwade David D   Meggendorfer Manja M   Haferlach Torsten T   Krizsán Szilvia S   Bödör Csaba C   Stölzel Friedrich F   Onel Kenan K   Allan James M JM  

Nature communications 20211029 1

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  ...[more]

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