AUTHOR=Wang Junke , Clay-Gilmour Alyssa I. , Karaesmen Ezgi , Rizvi Abbas , Zhu Qianqian , Yan Li , Preus Leah , Liu Song , Wang Yiwen , Griffiths Elizabeth , Stram Daniel O. , Pooler Loreall , Sheng Xin , Haiman Christopher , Van Den Berg David , Webb Amy , Brock Guy , Spellman Stephen , Pasquini Marcelo , McCarthy Philip , Allan James , Stölzel Friedrich , Onel Kenan , Hahn Theresa , Sucheston-Campbell Lara E. TITLE=Genome-Wide Association Analyses Identify Variants in IRF4 Associated With Acute Myeloid Leukemia and Myelodysplastic Syndrome Susceptibility JOURNAL=Frontiers in Genetics VOLUME=12 YEAR=2021 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.554948 DOI=10.3389/fgene.2021.554948 ISSN=1664-8021 ABSTRACT=
The role of common genetic variation in susceptibility to acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS), a group of rare clonal hematologic disorders characterized by dysplastic hematopoiesis and high mortality, remains unclear. We performed AML and MDS genome-wide association studies (GWAS) in the DISCOVeRY-BMT cohorts (2,309 cases and 2,814 controls). Association analysis based on subsets (ASSET) was used to conduct a summary statistics SNP-based analysis of MDS and AML subtypes. For each AML and MDS case and control we used PrediXcan to estimate the component of gene expression determined by their genetic profile and correlate this imputed gene expression level with risk of developing disease in a transcriptome-wide association study (TWAS). ASSET identified an increased risk for