Медицинская библиотека · Blood · 2026

Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences the risk of acute myeloid leukemia.

Ranasinghe Diyanath, Lin Wei-Yu, Fordham Sarah E, Alharbi Abrar, Sunter Nicola J, Elstob Claire, Nahari Mohammed H, Xu Yaobo, Park Catherine, Hungate Eric, Quante Anne, Strauch Konstantin, Gieger Christian, Skol Andrew, Rahman Thahira, Sucheston-Campbell Lara, Hahn Theresa, Clay-Gilmour Alyssa I, Jones Gail L, Marr Helen J, Jackson Graham H, Menne Tobias, Collin Matthew, Ivey Adam, Hills Robert K, Burnett Alan K, Russell Nigel H, Fitzgibbon Jude, Larson Richard A, Le Beau Michelle M, Stock Wendy, Heidenreich Olaf, Enshaei Amir, Gunasinghe Dumni, Hawking Zoë L, Heslop Holly, Nandana Devi, Di Bingjing, Plokhuta Anna, Brown Imogen T, Allsup David J, Houlston Richard S, Collins Andrew, Milne Paul, Norden Jean, Dickinson Anne M, Lendrem Clare, Daly Ann K, Palm Louise, Piechocki Kim, Jeffries Sally, Bornhäuser Martin, Röllig Christoph, Altmann Heidi, Ruhnke Leo, Kunadt Desiree, Wagenführ Lisa, Cordell Heather J, Darlay Rebecca, Andersen Mette K, Fontana Maria C, Martinelli Giovanni, Marconi Giovanni, Sanz Miguel A, Cervera José, Gómez-Seguí Inés, Cluzeau Thomas, Moreilhon Chimène, Raynaud Sophie, Sill Heinz, Voso Maria Teresa, Dombret Hervé, Cheok Meyling, Preudhomme Claude, Gale Rosemary E, Linch David, Weisinger Julia, Masszi Andras, Nowak Daniel, Hofmann Wolf-Karsten, Gilkes Amanda, Porkka Kimmo, Milosevic Feenstra Jelena D, Kralovics Robert, Wang Junke, Meggendorfer Manja, Haferlach Torsten, Krizsán Szilvia, Bödör Csaba, Parkin Brian, Malek Sami N, Stölzel Friedrich, Onel Kenan, Allan James M

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Аннотация

Acute myeloid leukemia (AML) is a complex hematologic malignancy with multiple disease subgroups defined by somatic mutations and heterogeneous outcomes. Although genome-wide association studies (GWAS) have identified a small number of common genetic variants influencing AML risk, the heritable component of this disease outside of familial susceptibility remains largely undefined. Here, we perform a meta-analysis of 4 published GWAS plus 2 new GWAS, totaling 4710 AML cases and 12 938 controls. We identify a new genome-wide significant risk locus for pan-AML at 2p23.3 (rs4665765; P = 1.35 × 10-8; EFR3B, POMC, DNMT3A, and DNAJC27), which also significantly associates with patient survival (P = 6.09 × 10-3). Our analysis also identifies 3 new genome-wide significant risk loci for disease subgroups, including AML with deletions of chromosome 5 and/or 7 at 1q23.3 (rs12078864; P = 7.0 × 10-10; DUSP23) and cytogenetically complex AML at 2q33.3 (rs12988876; P = 3.28 × 10-8; PARD3B) and 2p21 (rs79918355; P = 1.60 × 10-9; EPCAM). We also investigated loci previously associated with the risk of clonal hematopoiesis (CH) or CH of indeterminate potential and identified several variants associated with the risk of AML. Our results further inform on AML etiology and demonstrate the existence of disease subgroup specific risk loci.

Для цитирования: Ranasinghe Diyanath, Lin Wei-Yu, Fordham Sarah E, Alharbi Abrar, Sunter Nicola J, Elstob Claire, Nahari Mohammed H, Xu Yaobo, Park Catherine, Hungate Eric, Quante Anne, Strauch Konstantin, Gieger Christian, Skol Andrew, Rahman Thahira, Sucheston-Campbell Lara, Hahn Theresa, Clay-Gilmour Alyssa I, Jones Gail L, Marr Helen J, Jackson Graham H, Menne Tobias, Collin Matthew, Ivey Adam, Hills Robert K, Burnett Alan K, Russell Nigel H, Fitzgibbon Jude, Larson Richard A, Le Beau Michelle M, Stock Wendy, Heidenreich Olaf, Enshaei Amir, Gunasinghe Dumni, Hawking Zoë L, Heslop Holly, Nandana Devi, Di Bingjing, Plokhuta Anna, Brown Imogen T, Allsup David J, Houlston Richard S, Collins Andrew, Milne Paul, Norden Jean, Dickinson Anne M, Lendrem Clare, Daly Ann K, Palm Louise, Piechocki Kim, Jeffries Sally, Bornhäuser Martin, Röllig Christoph, Altmann Heidi, Ruhnke Leo, Kunadt Desiree, Wagenführ Lisa, Cordell Heather J, Darlay Rebecca, Andersen Mette K, Fontana Maria C, Martinelli Giovanni, Marconi Giovanni, Sanz Miguel A, Cervera José, Gómez-Seguí Inés, Cluzeau Thomas, Moreilhon Chimène, Raynaud Sophie, Sill Heinz, Voso Maria Teresa, Dombret Hervé, Cheok Meyling, Preudhomme Claude, Gale Rosemary E, Linch David, Weisinger Julia, Masszi Andras, Nowak Daniel, Hofmann Wolf-Karsten, Gilkes Amanda, Porkka Kimmo, Milosevic Feenstra Jelena D, Kralovics Robert, Wang Junke, Meggendorfer Manja, Haferlach Torsten, Krizsán Szilvia, Bödör Csaba, Parkin Brian, Malek Sami N, Stölzel Friedrich, Onel Kenan, Allan James M. Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences the risk of acute myeloid leukemia.. Blood. 2026. DOI: 10.1182/blood.2025031266.

Предметные рубрики MeSH

Humans Leukemia, Myeloid, Acute Genome-Wide Association Study Genetic Predisposition to Disease Polymorphism, Single Nucleotide Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1

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