Genome-Wide Association Study of Acute Myeloid Leukemia in Genomic Studies in Blood and Marrow Transplantation
Principal Investigator
Name
Filip Pirsl
Degrees
Ph.D., Sc.M.
Institution
National Cancer Institute
Position Title
Postdoctoral Fellow
Email
About this CDAS Project
Study
PLCO
(Learn more about this study)
Project ID
PLCO-1861
Initial CDAS Request Approval
Mar 18, 2025
Title
Genome-Wide Association Study of Acute Myeloid Leukemia in Genomic Studies in Blood and Marrow Transplantation
Summary
Genetic susceptibility to acute myeloid leukemia (AML) outside of rare, highly-penetrant germline variants is not well understood and prior genome-wide analyses (GWAS) in AML have been conducted in samples of limited size.
In this study, we will conduct GWAS on the etiology of AML in a large sample of (nearly 11,000) patients diagnosed with AML undergoing hematopoietic cell transplantation. Donor and recipient samples were collected by the Center for International Blood and Marrow Transplantation Research (CIBMTR) and SNP arrays were genotyped at NCI/CGR on the GSA array. Demographics and disease characteristics were also collected by the CIBMTR. Besides eligible transplant donors, controls will be selected from PLCO participants with SNP data also assayed on the GSA array.
In this study, we will conduct GWAS on the etiology of AML in a large sample of (nearly 11,000) patients diagnosed with AML undergoing hematopoietic cell transplantation. Donor and recipient samples were collected by the Center for International Blood and Marrow Transplantation Research (CIBMTR) and SNP arrays were genotyped at NCI/CGR on the GSA array. Demographics and disease characteristics were also collected by the CIBMTR. Besides eligible transplant donors, controls will be selected from PLCO participants with SNP data also assayed on the GSA array.
Aims
The aim of this project is to identify common variants conferring genetic susceptibility to AML. The primary analysis will be conducted on the full sample. Secondary analyses will be stratified by key patient and/or disease characteristics to identify potential heterogeneity across more homogenous subgroups with respect to disease stage.
Collaborators
Shahinaz Gadalla, Peter Kraft, Leila Abar, Xueyao Wu