Investigating the Association of Genetic Admixture and Donor/Recipient Genetic Disparity with Transplant Outcomes

Abeer Madbouly, Tao Wang, Michael Haagenson, Vanja Paunic, Cynthia Vierra-Green, Katharina Fleischhauer, Katharine C. Hsu, Michael R. Verneris, Navneet S. Majhail, Stephanie J. Lee, Stephen R. Spellman, Martin Maiers

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Disparities in survival after allogeneic hematopoietic cell transplantation have been reported for some race and ethnic groups, despite comparable HLA matching. Individuals' ethnic and race groups, as reported through self-identification, can change over time because of multiple sociological factors. We studied the effect of 2 measures of genetic similarity in 1378 recipients who underwent myeloablative first allogeneic hematopoietic cell transplantation between 1995 and 2011 and their unrelated 10 of 10 HLA-A, -B, -C, -DRB1, and-DQB1- matched donors. The studied factors were as follows (1) donor and recipient genetic ancestral admixture and (2) pairwise donor/recipient genetic distance. Increased African genetic admixture for either transplant recipients or donors was associated with increased risk of overall mortality (hazard ratio [HR], 2.26; P = .005 and HR, 3.09; P = .0002, respectively) and transplant-related mortality (HR, 3.3; P = .0003 and HR, 3.86; P = .0001, respectively) and decreased disease-free survival (HR, 1.9; P = .02 and HR, 2.46; P = .002 respectively). The observed effect, albeit statistically significant, was relevant to a small subset of the studied population and was notably correlated with self-reported African-American race. We were not able to control for other nongenetic factors, such as access to health care or other socioeconomic factors; however, the results suggest the influence of a genetic driver. Our findings confirm what has been previously reported for African-American recipients and show similar results for donors. No significant association was found with donor/recipient genetic distance.

Original languageEnglish (US)
Pages (from-to)1029-1037
Number of pages9
JournalBiology of Blood and Marrow Transplantation
Issue number6
StatePublished - Jun 2017

Bibliographical note

Publisher Copyright:
© 2017 The American Society for Blood and Marrow Transplantation


  • African-American race
  • Ancestry informative markers
  • Genetic admixture
  • Genetic ancestry
  • Hematopoietic stem cell transplantation
  • Race and ethnicity


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