Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences the risk of acute myeloid leukemia.
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TL;DR
A meta-analysis of four published GWAS plus two new GWAS, totalling 4710 AML cases and 12938 controls, identifies a new genome-wide significant risk locus for pan-AML and demonstrates the existence of disease sub-group specific risk loci.
OpenAlex 토픽 ·
Acute Myeloid Leukemia Research
Genomics and Rare Diseases
Acute Lymphoblastic Leukemia research
A meta-analysis of four published GWAS plus two new GWAS, totalling 4710 AML cases and 12938 controls, identifies a new genome-wide significant risk locus for pan-AML and demonstrates the existence of
- 연구 설계 meta-analysis
APA
Diyanath Ranasinghe, Wei-Yu Lin, et al. (2026). Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences the risk of acute myeloid leukemia.. Blood, 147(17), 1958-1969. https://doi.org/10.1182/blood.2025031266
MLA
Diyanath Ranasinghe, et al.. "Common variation at 1q23.3, 2p23.3, 2q33.3, and 2p21 influences the risk of acute myeloid leukemia.." Blood, vol. 147, no. 17, 2026, pp. 1958-1969.
PMID
41610418 ↗
Abstract 한글 요약
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.
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