Validation Study Failed to Confirm an Association between Genetic Variants in the Base Excision Repair Pathway and Transplant-Related Mortality and Relapse after Hematopoietic Cell Transplantation

We previously reported associations between 6 recipient single nucleotide polymorphisms (SNPs) in 4 genes in base excision repair pathway with transplant-related mortality (TRM) and disease relapse after hematopoietic cell transplant (HCT) in 470 recipients from a single institution [1]. To validate these results, we obtained an independent sample set from the Center for International Blood and Marrow Transplant Research (CIBMTR). Our study population included 928 white adult patients (age > 18 years at HCT) with acute myeloid leukemia, acute lymphoblastic leukemia, or chronic myeloid leukemia who received a myeloablative 10/10 matched unrelated donor T cell–replete HCT from 1997 to 2007 facilitated by the National Marrow Donor Program.